Résumé QE endocrino

• Kallmann syndrome (Morsier syndrome) or hypothalamic deficiency in GnRH
• Prader-Willi syndrome
• Laurence-Moon-Bardet-Biedl syndrome

• Klinefelter syndrome (47 XXY)
• Noonan syndrome
• Dystonic myopathy

A cervical X-ray is particularly useful in cases of plunging goiter to check for the impact of thyroid hypertrophy on the trachea.

Thyroid scintigraphy is indicated in the presence of one or more nodules with hyperthyroidism.

• Chemotherapy
• Radiotherapy
• Orchitis

• Homogeneous, firm, and elastic goiter
• Ophthalmopathy: bilateral and symmetrical exophthalmos is a key diagnostic feature.
• Acropathy: thickening of fingers and toes with digital clubbing and osteoarthropathy, though this is rare.
• Pretibial myxedema: characterized by an orange peel appearance, hard skin, and possibly brown coloration, localized to the anterior legs, but this is exceptional.
• Symptoms like depression and atrial fibrillation are more common in older patients than in younger ones.

A Doppler ultrasound of the thyroid allows for a precise evaluation of the thyroid volume and can specify the characteristics of the nodule and its vascularization, classified according to EU-TIRADS.

Diabetes mellitus is a chronic disease characterized by a permanent glycemic imbalance.

The prevalence of diabetes is constantly and rapidly increasing due to factors such as greater longevity in the general population, urbanization, and the rising prevalence of obesity and sedentary lifestyles.

The cardinal symptoms of diabetes syndrome include:

• Weight loss (catabolism of lipid reserves)
• Polydipsia
• Polyuria
• Polyphagia (inconstant)

The diagnostic criteria for diabetes include:

• Normal blood glucose ranges from 0.8 to 1 g/l (5.5 mmol)
• Glucose in the blood only appears in urine when it exceeds 1.8 g/l (renal threshold)
• Diagnosis of diabetes is made when:

1. Fasting blood glucose ≥ 1.26 g/l (7 mmol) verified at least twice
2. Random blood glucose ≥ 2 g/l (10 mmol)
3. 1.10 < G fasting < 1.26 g/l indicates fasting hyperglycemia
4. 1.26 < GPP < 2 g/l indicates glucose intolerance (pre-diabetes)

1. Two venous blood glucose tests > 1.26 g/L
2. One venous blood glucose test > 2 g/L with cardinal syndrome: polyuria, polydipsia, weight loss (may indicate insulin necessity in type 2 diabetes), and dysphagia.
3. HbA1c > 6.5%.
4. Oral glucose tolerance test (OGTT) with 75g glucose where blood glucose exceeds 2 g/L.

Secondary diabetes can present as either type 1 or type 2 diabetes. It does not evolve on its own and is a result of conditions causing hyperglycemia. Causes can be genetic or due to mitochondrial DNA mutations.

1. Age > 40 years.
2. Family history of diabetes (hypertension or dyslipidemia).
3. Android obesity.
4. Association with other cardiovascular risk factors.
5. Absence of spontaneous ketonuria.

Type 2 diabetes is often discovered incidentally, especially in individuals over 40 years old. It may be associated with overweight or obesity (android type) and glucosuria, but cardinal syndrome is not present. It can also be discovered during complications such as myocardial infarction, chronic foot ulcers, or diabetic retinopathy.

• Leading cause of end-stage renal failure.
• Leading cause of non-traumatic amputation (gangrene, ischemia).

The Whipple triad consists of:

1. Signs of hypoglycemia.
2. Low blood glucose level.
3. Symptoms that improve with sugar intake.

Biological confirmation is a blood glucose level ≤ 0.70 g/L (preferably capillary in emergencies).

Urgent treatment includes:

• Intake of sugar pieces.
• Hypertonic glucose IV.
• Glucagon SC or IM if necessary.

Preventive treatment focuses on:

• Education (self-monitoring).
• Systematic snacks to prevent hypoglycemia.

Hypoglycemia can be classified into three severity levels:

1. Mild
2. Moderate
3. Severe

Maintaining good balance is crucial to prevent severe hypoglycemia.

• Motor deficit syndromes: paralysis, monoplegia
• Consciousness disorders lasting a few hours or days
• Agitated coma... convulsive or sometimes calm (danger)

• Hypertensive crisis, pulmonary edema (OAP)
• Angina not related to effort, corrected by sugar replenishment

• Cerebral edema post-hypoglycemia
• Irreversible peripheral neuropathy
• Lasting neuro-psychic disorders
• Severe amnesic disorders
• Vertebral compression
• Fractures (falls)

• A very frequent complication due to poor diabetes control
• Consequence of a profound insulin deficiency: more rare in type 2 diabetes, primarily seen in type 1 diabetes
• Can lead to true coma, which is quite rare (< 10%)

• Most often in known type 1 diabetics:
  • Severe infections (50%)
  • Stress (myocardial infarction, trauma)
  • Corticosteroid therapy
  • Accidental or voluntary cessation of insulin therapy
  • Defective self-monitoring
  • Sometimes revealing (30% of cases)

• Dehydration, weight loss (AEG)
• Digestive disorders (vomiting)
• Neurological disorders (dizziness)
• Increased heart rate and pulse
• Hypotension and ketone breath (rotten apple)

Measure blood glucose with a finger prick + test strips + venous pH

EDUCATION

1. Rapid insulin (via electric syringe / IV or IM)
2. Rehydration: volume replacement with isotonic saline; when glucose approaches 2.5, switch to isotonic glucose solution
3. Adjust potassium intake according to potassium levels

• Massive global dehydration
• Major hyperglycemia
• Hyperosmolarity

20-40%

Careful and slow rehydration according to the patient's condition

IV insulin therapy maintaining blood glucose > 2.50

Monitor consciousness, pulse, blood pressure, and temperature

Monitor electrolytes and creatinine levels

Preventive heparin therapy to avoid thromboembolic disorders due to hemoconcentration

Treatment of the underlying condition causing the hyperglycemic hyperosmolar coma

• Normoglycemic diet: 50% carbohydrates, 20% proteins, 30% fats.
• At least 3 meals per day to avoid late afternoon snacking.
• Prefer unsaturated fats (e.g., fish, vegetable oil).
• Set a realistic weight loss goal.
• Decrease alcohol intake.

Metformin primarily reduces insulin resistance and is the first-line treatment for type 2 diabetes. It should be taken during or at the end of meals with a progressive dosage. It has a high incidence of digestive intolerance and a rare risk of lactic acidosis.

• Renal insufficiency (eGFR < 45 ml/min).
• Severe respiratory insufficiency.
• Decompensated heart failure.
• Critical limb ischemia or unstable coronary ischemia.
• Recent stroke.

• No risk of hypoglycemia.
• They stimulate insulin production by the pancreas.

• Possible digestive intolerance.
• Weight gain due to increased insulin secretion.
• Not indicated for gestational diabetes.
• High risk of hypoglycemia.

• It is the only treatment for type 1 diabetes and may be temporary for type 2 diabetes.
• Can be based on human insulin or analogues.
• Basal-bolus regimen or bedtime insulin is preferred for type 1 diabetes.
• Indicated when HbA1c remains above 9%.

• Quarterly HbA1c testing (target < 6.5% or < 7%).
• Annual screening for nephropathy (microalbuminuria, creatinine clearance).
• Annual examination for retinopathy (ophthalmological exam + fundus examination).

• S = 0, A = +: fasting ketosis; A +: hypoglycemia.
• S = +++, A = ++: very likely ketoacidosis.
• A urinary infection can distort the interpretation of proteinuria.

Metabolic abnormalities include:

• Dilutional hyponatremia
• Increased CPK
• Hypercholesterolemia
• Hyperprolactinemia

Hypoglycemia is diagnosed when the blood glucose level is less than or equal to 0.60 g/L (2.8 mmol/L). Symptoms may be present or absent, and there is no specific sign for hypoglycemia. However, there is a correlation between the rapidity of onset and functional signs.

Whipple's triad consists of:

1. Rapid onset of neuroglycopenic clinical manifestations
2. Capillary blood glucose < 0.50 g/L
3. Rapid correction of symptoms after administration of glucose.

Common etiologies include:

• Iatrogenic causes in diabetics (medications other than oral hypoglycemics)
• Factitious hypoglycemia
• Organic hypoglycemia, such as pancreatic tumors (insulinoma) and extra-pancreatic tumors (mesenchymal, liver, adrenal cortex).

Dyslipidemias are characterized by an increase in one or more blood lipids. They are heterogeneous and very common (4-10% prevalence), representing one of the four main cardiovascular risks. They have a significant genetic origin and are influenced by environmental factors.

Screening for dyslipidemia is recommended for adults with cardiovascular risk factors, including:

• Men over 40 years, women over 50 years or postmenopausal
• Family history of dyslipidemia or premature cardiovascular disease (men < 55 years, women < 65 years)
• Active smoking or cessation within the last 3 years, overweight or obesity
• Persistent hypertension, diabetes.

Exploration of lipid anomalies allows to:

1. Characterize the type of hyperlipidemia (serum appearance, cholesterol, triglycerides, HDL-C)
2. Assess the risk of arterial complications
3. Determine the most effective treatment type.

The appearance of serum varies as follows:

• Clear in isolated or essential hypercholesterolemia
• Opalescent in mixed dyslipidemias (hypercholesterolemia + hypertriglyceridemia)
• Lactescent in pure or major hypertriglyceridemia
• Creaming indicates the presence of chylomicrons (hypertriglyceridemia type I).

LDL cholesterol (LDLc) should be measured after a 12-hour fast and away from any acute illness. Additionally, it should be measured outside of any hypolipidemic diet or treatment.

Frederickson's classification includes:

Pure hypercholesterolemia (Type IIa) is characterized by:

• Isolated elevation of cholesterol levels with increased LDLc and clear serum when fasting.
• Presence of gerontoxon before ages 40-50.
• Significant xanthomas.
• Early atheroma, especially coronary, leading to a risk of myocardial infarction (IDM).
• Treatment is challenging.

Common secondary hyperlipidemias include:

• Diabetes: presents as type IV, I, or V.
• Gout: presents as type IIb or IV.
• Hypothyroidism: presents as type IIa or IIb.
• Cholestasis: associated with hypercholesterolemia and secondary phospholipids.
• Nephrotic syndrome: associated with hypercholesterolemia and hypertriglyceridemia.
• Chronic kidney disease (IRC): associated with high VLDL.
• Pregnancy, alcoholism, and iatrogenic causes. Etiological treatment should be prioritized before statin therapy.

Obesity is the first non-infectious disease in history and is considered a true epidemic affecting all countries. Key facts include:

• 50% of Americans are overweight, and 25% are obese.
• In Europe, 30% of adults are overweight, and there is a significant prevalence of obesity among children.

In Morocco, the prevalence of obesity is 13.3%, with a higher rate of 25% among women.

Obesity is defined as a BMI ≥ 30, and it is considered morbid if the BMI is ≥ 40 kg/m².

The four types of obesity are:

Secondary obesity can be caused by:

Normal calcium levels in the blood range from 2.2 to 2.6 mmol/L (90 to 105 mg/L), with severe hypercalcemia defined as levels ≥ 140 mg/L.

Calcium plays several critical roles in the body, including:

• Muscle contraction
• Blood coagulation
• Nerve signal transmission

Calcium levels are primarily regulated by:

• Parathyroid hormone
• Calcitonin
• Active metabolites of vitamin D

When interpreting calcium levels, consider:

• Errors in sampling: e.g., prolonged tight tourniquet, poorly decalcified equipment
• Spontaneous fluctuations: e.g., neoplastic hypercalcemia
• Repeat calcium measurements: at least 3 times for accuracy.

Severe hypercalcemia is a therapeutic emergency that can lead to vital complications, presenting with:

• Coma
• Abdominal pain (pseudo-surgical)
• Cardiovascular collapse
• Increased proteins and hematocrit

Hypercalcemia can be due to:

1. Decreased renal excretion of calcium
2. Increased intestinal absorption of calcium
3. Increased bone resorption of calcium

The clinical signs of hypercalcemia are non-specific and depend on the degree and speed of onset.

Digestive Signs:

• Constipation (most common)
• Anorexia, nausea, vomiting (sometimes uncontrollable)
• Severe acute pancreatitis (seen in primary hyperparathyroidism)
• UGD: gastrin secretion

Cardiovascular Signs:

• Prolonged HC: Calcium deposits in heart valves, coronary arteries, and myocardial fibers leading to decreased action potential of myocardial fibers
• ECG: QT interval shortening
• Myocardial hyperexcitability with ectopic beats
• Possible hypertension

Renal Signs:

• Renal lithiasis (chronic HC)
• Diabetes insipidus (polyuria and polydipsia)
• Renal insufficiency

Neuropsychic Signs:

• Muscle weakness
• Hyporeflexia or areflexia
• Mood disturbances and intellectual function issues

Ocular signs of hypercalcemia include:

• Band keratopathy
• Slit lamp examination
• Subepithelial calcium deposits in the cornea

Other manifestations of hypercalcemia include:

• Weight loss
• Elevated temperature
• Calcification (hydroxyapatite deposits)
• Vascular: Mediacalcinosis
• Visceral: Kidney, heart, pancreas, lung, tympanum
• Subcutaneous: Pruritus
• Capsulo-ligamentous/tendinous: Movement limitations

Hypercalcemia is often associated with hypophosphatemia (e.g., primary hyperparathyroidism, malignant humor HC). However, phosphatemia can be normal or elevated in conditions such as:

• Granulomatosis
• Vitamin D intoxication
• Immobilization
• Thyrotoxicosis
• Milk-alkali syndrome
• Bone metastases

Increased intact PTH levels:

• Primary hyperparathyroidism
• Lithium use
• Hypercalcemia with hypophosphatemia

Decreased or normal PTH levels:

• Other causes of HC not induced by PTH
• Malignant humor HC:
  • Clinical signs of cancer
  • Relatively recent onset of HC
  • Elevated PTHrP levels

There are more than 25 etiologies of hypercalcemia, which require:

• Patient history and clinical examination
• Measurement of phosphatemia, calciuria, and vitamin D metabolites

The common causes include:

1. Simple parathyroid adenoma (80%)
2. Double adenomas (5%)
3. Parathyroid hyperplasia (15%)
4. Parathyroid carcinoma (2%)
5. Possible familial forms
6. Cervical irradiation 30-40 years prior (20%)

The clinical manifestations include:

The biological confirmation of euthyroidism is provided by the measurement of TSH (Thyroid Stimulating Hormone).

The treatment options depend on:

1. Degree of hypercalcemia
2. Mechanism of hypercalcemia
3. Potential tolerance to medications

Common treatments include:

• Surgical intervention
• Medical treatment (e.g., bisphosphonates as needed)

Conditions associated with endogenous overproduction of calcitriol include:

• Granulomatoses
• Malignant lymphomas
• Generally asymptomatic
• Possible signs of chronic hypercalcemia: urinary stones / nephrocalcinosis + renal insufficiency

Cancers frequently associated with hypercalcemia include:

• Breast cancer
• Lung cancer
• Multiple myeloma
• Humoral malignant hypercalcemia (should be suspected in any patient with hypercalcemia + solid tumor in the absence of bone metastasis)

Mechanisms that can lead to hypocalcemia include:

• Increased losses of ionized calcium
• Reduction of ionized calcium levels due to:
  1. Use of citrate/lactate
  2. Acute respiratory alkalosis
  3. Plasma exchanges
  4. Significant urinary losses
  5. Blood transfusions

Extravascular calcium deposits can be caused by:

• Hyperphosphatemia
• Acute pancreatitis
• Osteoblastic metastases
• Hungry bone syndrome

Conditions leading to decreased calcium entry into circulation include:

1. Acquired hypoparathyroidism: often due to thyroidectomy, infiltration of parathyroid glands by neoplastic granulomatous processes, autoimmune conditions, or agenesis/hypoplasia of parathyroid glands.
2. Genetic hypoparathyroidism
3. Hypomagnesemia + Hypovitaminosis D
4. Pseudo-hypoparathyroidism: characterized by resistance to PTH, leading to hypocalcemia with elevated PTH levels.

Complications of hypoparathyroidism include:

• Acute: Acute hypocalcemia, which is a therapeutic emergency requiring early IV management.
• Chronic: Congestive heart failure, cataracts, Fahr's syndrome (calcifications of the basal ganglia).

Treatment options for hypoparathyroidism include:

• Calcium-rich diet: dairy products, sardines, etc.
• Calcium supplementation: calcium salts.
• Active metabolites of vitamin D.
• Magnesium supplementation: in cases of hypomagnesemia.

The average age of onset for hypothyroidism is 60 years, with a prevalence of approximately 2% in the population. The condition is more common in women, with a sex ratio of 1/10. Additionally, 5 to 10% of hypothyroid cases occur in the postpartum period.

The classic symptoms of primary thyroid insufficiency (myxedema) include:

• Hypothermia, cold intolerance, constipation, modest weight gain, and anorexia.
• Cardiac signs: bradycardia, muffled heart sounds.
• Neuromuscular syndrome: often early, carpal tunnel syndrome, muscle cramps, myalgias, muscle stiffness. | - Dominated by myxedema, characterized by firm and elastic infiltration of the skin, subcutaneous tissues, and mucous membranes by a mucoid substance rich in acidic polysaccharides (false edema that does not pit).
• Skin and appendages: dry, pale skin or with an orange tint (due to impaired conversion of dietary carotene to vitamin A).
• Decreased sweating.
• Appendages affected: dry, brittle hair, hair loss (axillary, pubic, tail of eyebrows), and striated, fragile nails. |

In women, symptoms include menstrual cycle disturbances, menorrhagia, infertility, or early miscarriages. In men, symptoms include libido issues and erectile dysfunction.

Early diagnosis of thyroid insufficiency is often made without obvious signs, referred to as subclinical or infra-clinical hypothyroidism, characterized by elevated TSH and normal LT3 and LT4 hormones.

Signs include:

1. Rounded face (lunar facies) with thickened features.
2. Puffy eyelids, especially in the morning.
3. Cyanosis of the lips.
4. Infiltration of hands and feet with swollen fingers.
5. Trunk infiltration with filling of supraclavicular and axillary hollows.
6. Hoarse and deep voice (laryngeal infiltration).
7. Hearing loss (Eustachian tube infiltration).
8. Macroglossia (tongue infiltration).
9. Frequent snoring.

The screening method is to measure TSH alone for subclinical hypothyroidism. If there is a strong clinical suspicion, TSH and T41 should be measured for overt hypothyroidism.

An elevated TSH is the earliest sign of peripheral hypothyroidism. If TSH is normal or low, it indicates a pituitary origin, which is termed thyrotropic insufficiency. Free T4 levels indicate the severity of hypothyroidism.

Complications can include:

• Cardiovascular issues: bradycardia, ventricular rhythm disturbances, pericardial effusion, and early development of atheroma.
• Myxedema coma: rare, characterized by bradycardia and hypothermia.
• Hematological issues: various types of anemia, often macrocytic.

The primary causes (98%) are autoimmune, including:

1. Chronic lymphocytic thyroiditis (Hashimoto's thyroiditis)
2. Atrophic thyroiditis

Characteristics include:

• Presence of a firm, often pseudo-nodular goiter.
• Heterogeneous-hypoechogenic echostructure on cervical ultrasound.
• Diagnosis confirmed by the presence of anti-TPO antibodies or anti-thyroglobulin antibodies if anti-TPO is negative.
• Pain with rapid growth of the goiter or pseudo-nodular area during treatment.

Characteristics include:

• More common after age 50.
• Lower levels of thyroid antibodies.
• Slow progression to hypothyroidism.
• Postpartum thyroiditis: transient hyperthyroidism around the second month, followed by hypothyroidism or isolated hypothyroidism between the third and sixth months postpartum, often with a small goiter.

Cytological puncture is necessary to rule out the possibility of lymphoma, which complicates less than 1% of autoimmune thyroiditis.

Personal or family associations with vitiligo or other autoimmune conditions (such as type 1 diabetes, adrenal or ovarian insufficiency, rheumatoid arthritis, Biermer's disease, etc.) can suggest the diagnosis of thyroiditis.

Antithyroid antibodies are present in 90% of cases of autoimmune thyroiditis.

Hypothyroidism is often transient (less than 1 year), recurrent in 40% of cases, and definitive in 20% of cases within 4 years.

De Quervain's subacute thyroiditis is characterized as granulomatous, inflammatory, and painful, with hypothyroidism occurring during the healing phase after hyperthyroidism.

Iatrogenic causes include iodine overload, antithyroid drugs, lithium, cytokines, iodine-131, thyroidectomy, cervical radiotherapy, and iodine deficiency (cretinism).

Lifelong treatment with levothyroxine is recommended, taken in the morning on an empty stomach with water, 15-30 minutes before breakfast or at bedtime a few hours after dinner.

The starting dose for patients under 50 years old with a healthy heart is 1 µg/kg/day.

Clinical manifestations include cardiovascular disorders (tachycardia, palpitations), neuropsychic disorders (excessive nervousness, tremors), thermophobia with sweating, significant weight loss despite increased appetite, polydipsia, and decreased muscle strength.

Cardiovascular symptoms include regular sinus tachycardia, palpitations, increased heart sounds, and elevated systolic blood pressure.

Neuropsychic symptoms include excessive nervousness, psychomotor agitation, mood lability, fine tremors of the extremities, and general fatigue.

• Hormonal assessment: low TSH and elevated free thyroid hormone levels.
• TSH receptor antibodies: detected in 80-90% of Graves' disease cases, generally elevated; these antibodies act as agonists, stimulating iodine uptake, hormonal synthesis (hyperthyroidism), cellular proliferation (goiter), and vascularization (vascular goiter).
• Scintigraphy: not necessary for diagnosis; if performed, it shows intense and diffuse uptake (hot nodules).
• Ultrasound: helps identify etiology; in Graves' disease, the parenchyma appears generally hypoechoic and heterogeneous with hypervascular areas.

• Also known as toxic adenoma, it results from a benign monoclonal proliferation of follicular cells leading to a nodule and hyperthyroidism, with growth and function escaping pituitary control.
• Represents 5-10% of nodules.
• More common in older individuals, predominantly in females aged 40-60 years.
• Clinical examination reveals pure thyrotoxicosis, dominated by cardiac signs, without extra-thyroidal clinical signs.

1. Normalization of thyroid hormones using antithyroid drugs (ATS).
2. Surgery: typically involves lobo-isthmectomy.

Iodine-131 therapy is possible and represents a good indication for patients at high surgical risk.

Therapeutic measures include:

1. Rest and rehydration, especially for the elderly.
2. Sedatives: benzodiazepines if necessary, but never prescribed for more than one month to avoid dependence.
3. Beta-blockers: preferably non-cardioselective, especially Propranolol (Avlocardyl 20 to 40 mg three times a day), which inhibits the conversion of T4 to T3, contraindicated in cases of heart failure.
4. Medications inhibiting thyroid hormone production: Synthetic antithyroid drugs (ATS) prescribed for 12 to 18 months if Basedow's disease is present.
5. Radical treatment proposed after restoring euthyroidism: iodine-131 or surgery.

A goiter is diagnosed through:

1. Clinical examination: visible and palpable thyroid enlargement.
2. Ultrasound: provides a precise calculation of thyroid volume for diagnosis.
3. Classification: classified into 5 stages according to the 1974 WHO classification and 4 stages according to the 2022 classification (OA, OB, I, II).

A goiter can be associated with various pathologies, including:

• Hashimoto's disease
• Subacute thyroiditis of De Quervain
• Basedow's disease
• Silent thyroiditis
• Riedel's thyroiditis
• Anaplastic cancer
• Thyroid lymphoma
• Goiter related to a hormone synthesis disorder.

A simple goiter is defined in the absence of:

• Dysthyroidism
• Autoimmunity
• Thyroiditis
• Suspicion of malignancy
• Local regional effects.

It is usually diffuse and homogeneous in young subjects, becoming multinodular over time.

Complications of multinodular goiter include:

1. Toxic multinodular goiter: when newly formed nodules are functional (hot nodules capturing iodine) and autonomous from TSH (synthesis of T4 or T3 independent of circulating TSH).
2. Compressing goiter: can cause dyspnea, dysphonia, dysphagia, and superior vena cava syndrome.
3. Risk of thyroid cancer: associated with a nodular goiter is 3 to 5%, regardless of whether the nodule is single or multiple.

The exploration of nodules relies on:

• Ultrasound description
• TSH dosage
• Anamnesis (history of cervical irradiation, family history of medullary thyroid cancer).

The clinical examination should specify:

1. The thyroid nature of the masses (mobile during swallowing)
2. The structure (diffuse or nodular)
3. Whether the goiter is plunging into the mediastinum
4. The presence of cervical adenopathies
5. Signs of local compression (dysphonia, dysphagia, dyspnea, collateral circulation)
6. Bilateral elevation of the upper limbs that may exacerbate dyspnea
7. Signs of hyperthyroidism or hypothyroidism.

• Normal TSH: Fine needle aspiration cytology should be considered.
• Low TSH: Indicates hyperthyroidism and prompts a thyroid scan.
• Simple goiters: Typically euthyroid.
• Low or suppressed TSH: Suggests transition to toxicity.

The risk factors for malignancy include:

• Male sex
• Very young or advanced age
• Family history of thyroid cancer
• Therapeutic or accidental irradiation.

Ultrasound provides:

• Precise volume assessment
• Shows a homogeneous isoechoic thyroid in diffuse goiters
• Detailed description of nodules in multinodular goiters (appearance, measurements, and localization for longitudinal follow-up).

Clinical information to assess thyroid dysfunction includes:

• Hardness of the nodule upon palpation
• Rapid increase in nodule volume
• Presence of satellite lymphadenopathy, which may indicate malignancy.

Fine needle cytology of suspicious thyroid nodules, with a diameter of at least one centimeter, is the key examination, provided it is performed with rigorous sampling and reading techniques.

Morphological signs of Cushing's disease include:

• Moderate weight gain and changes in fat distribution: facial and truncal obesity, rounded moon face, widened neck, buffalo hump, and distended abdomen.
• False obesity contrasting with thin limbs due to predominant amyotrophy at the root of the limbs, leading to asthenia.

Cutaneous manifestations of hypercorticism include:

• Facial erythema
• Thinned, fragile skin with delayed healing
• Wide, purple striae located on the abdomen, flanks, breasts, armpits, and inner thighs
• Easily provoked bruises and hematomas.

Signs of hyperandrogenism in Cushing's disease can vary in intensity and may include:

• Seborrhea
• Acne
• Hirsutism
• True signs of virilization such as frontal balding, deep voice, and clitoral hypertrophy.

Common clinical manifestations associated with hypertension in Cushing's disease include:

• Frequent hypertension
• Increased risk of arterial and venous thromboembolic events
• Gonadal function disorders: oligo-amenorrhea and ovulation disorders in females; decreased libido and impotence in males.
• Psychological disorders: anxiety, irritability, severe depression, delirium, and manic-depressive psychosis.

The elevation of free urinary cortisol (CLU) is the most sensitive indicator of hypercortisolism. A level four times the normal confirms the diagnosis.

The plasma cortisol cycle shows elevated levels throughout the nycthémère, including around midnight, and is an excellent diagnostic test, although it requires hospitalization.

Salivary cortisol is a non-invasive and non-stressing test that reflects free plasma cortisol directly, but its dosage is not available in Morocco.

The dexamethasone suppression test involves taking 1 mg of DXM orally between 11 PM and midnight, with cortisol levels measured the next morning. In normal subjects, cortisol levels drop below 10 ng/ml, while in hypercortisolism, levels remain above 18 ng/ml, helping to eliminate differential diagnoses.

Clinical signs indicating Cushing's disease include melanodermia, virilism, a tumor syndrome (headaches, visual disturbances), and a profound alteration of general health, which may suggest a malignant cause.

Cushing's disease in young women is characterized by pure hypercortisolism with melanodermia, minimal hypertrichosis, normal or slightly elevated ACTH levels, a positive strong suppression test, and MRI may show corticotropic microadenomas.

Common clinical signs of Addison's disease include progressively increasing asthenia (constant physical, psychological, and sexual fatigue), arthralgias, and myalgias, often with a circadian rhythm.

Common symptoms include:

• Weight loss: gradual and constant, often unnoticed, with a craving for salt.
• Digestive signs: nausea, abdominal pain, transit disorders.
• Blood pressure issues: systolic hypotension, orthostatic hypotension, normalization in hypertensive patients.
• Hypoglycemic manifestations: during fasting or physical exertion.
• Psychiatric signs: depression, psychotic-like disorders.
• Genital disorders: amenorrhea in women, erectile dysfunction in men.

The major skin manifestation is melanodermie, which may be moderate and not easily noticeable. It presents as:

• Brown pigmentation resembling a solar tan but more heterogeneous and somewhat 'dirty'.
• Predominantly affects normally pigmented areas: areolas, genital areas, friction zones (elbows, waist), sun-exposed areas, flexion folds, palms, and joints.
• Also affects mucous membranes: 'slate spots' on the inner cheeks, tongue, gums, and hair/nails.

The biological signs of male hypogonadism are classified as follows:

• Low testosterone levels or within normal limits | - Low testosterone levels with normal or low gonadotropins. The GnRH test assesses the pituitary reserve of LH and FSH. |

Etiological diagnoses for primary adrenal insufficiency include:

1. Autoimmune adrenal insufficiency: may appear isolated or associated with other autoimmune diseases.
2. Bilateral adrenal tuberculosis: classic Addison's disease, accounting for 20% of cases, more prevalent in endemic areas like Morocco.
3. Bilateral adrenal metastases: primarily from lung cancer.
4. Adrenal enzymatic blocks: infiltration by amyloidosis, fungal lesions (histoplasmosis, coccidioidomycosis).
5. Adrenal hemorrhage: due to anticoagulants or severe infections.
6. Trauma or vascular radiological investigations.

Positive diagnostic criteria include:

• Signs of hormonal deficiency:

  • Iono: hypernatriuria, hyponatremia, hyperkalemia may be minor or absent in compensated forms; their appearance indicates acute decompensation.
  • Tendency to hypoglycemia during fasting and a flat hyperglycemia curve.
  • Opsiuria: delayed water elimination during the Robinson test.
  • NFS: characteristic eosinophilia.

• Certainty diagnosis:

  • Cortisol collapse measured at 8 AM or any time of day.
  • Aldosterone collapse with elevated renin (not routinely measured).
  • Elevated ACTH levels when cortisol is low indicates adrenal origin of the insufficiency.

• Dynamic tests:

  • Immediate Synacthène test: absence of cortisol under stimulation with 0.25 mg of Synacthène IV or IM.

• Severe extracellular dehydration with cardiovascular collapse and skin fold
• Digestive disorders: nausea, vomiting, diarrhea, abdominal pain that may mimic surgical conditions
• Fever, either central or due to a superimposed infection (which can be a triggering factor)
• Diffuse muscle pain
• Neuropsychic disorders: confusion, delirium, clouding of consciousness, coma
• Biological findings: hypoglycemia, hyponatremia (70-80%), hyperkalemia (40%), moderate hypercalcemia, mild TSH abnormalities, hematological anomalies: anemia, lymphocytosis, neutrophilia
• Treatment: IV or IM injection of 100 mg of hydrocortisone

• Danger of interrupting treatment: it is a lifelong treatment
• Need to double doses in case of abnormal fatigue or stress: any type of infection, especially viral
• During surgical interventions, childbirth, or severe illness, parental hydrocortisone will be used
• Danger of a salt-free diet or medications causing water-sodium loss: diuretics, laxatives
• Must carry injectable hydrocortisone for use in case of digestive disorders and suspension of oral feeding
• Must have an Addison's card with diagnosis, treatment, and doctor's contact information
• Do not fast during Ramadan.

• Neuroendocrine tumors that secrete catecholamines
• Arise from chromaffin cells of the adrenal medulla
• Represent a curable cause of hypertension
• Can be fatal during a hypertensive crisis
• Can be benign or malignant
• May be part of multiple endocrine neoplasia (MEN) syndrome

• Hypertension (HTA)
• Incidentaloma (an incidental finding on imaging)
• Family history
• Clinical signs

• Major sign: adrenaline shock => sudden and transient hypertension followed by major cardiovascular collapse with unmanageable blood pressure
• Ménard's triad: headaches, palpitations (extreme tachycardia), profuse sweating
• Pallor, cooling of extremities, anxiety, tremors
• Sometimes vomiting, visual disturbances, abdominal or chest pain

Preoperative medical preparation is necessary to control hypertension (HTA), correct volemia, and prevent rhythm disorders before surgical treatment.

The secondary causes of hypertension related to hyperaldosteronism include:

• Medications and toxins
• Sleep apnea syndrome
• Primary hyperaldosteronism
• Pheochromocytoma/PGL
• Licorice consumption
• Nephropathy
• Renal artery stenosis
• Hypercorticism
• Acromegaly

Primary hyperaldosteronism accounts for 1 to 2% of hypertension cases and is the most common cause of secondary hypertension, responsible for 50% of endocrine hypertension cases. It is characterized by:

• Hypermineralocorticism: HTA + Hypokalemia + Low renin
• Often asymptomatic, but can cause clinical signs such as polyuria, muscle fatigue, paresthesia, and prolonged QT on ECG.

The diagnosis of primary hyperaldosteronism is confirmed by the association of plasma aldosterone and renin levels. The best examination to differentiate between Conn's adenoma and bilateral adrenal hyperplasia is adrenal vein catheterization.

The treatment approach is as follows:

1. Conn's adenoma (main cause) => Surgery
2. Bilateral adrenal hyperplasia => Medical treatment

Male hypogonadism can be classified into:

• Impuberty or delayed puberty
• Gynecomastia (present in 50% of Klinefelter syndrome cases)
• Small testicles, absent or very low body hair | Manifests as:
• Loss of libido, impotence
• Decreased body hair (less frequent shaving)
• Oligospermia or even azoospermia (low or no sperm count) or gynecomastia |

• Drug-induced hyperprolactinemia
• Prolactin adenomas, hypothalamic-pituitary tumors compressing/infiltrating the pituitary stalk
• Gonadotropic insufficiency post-radiotherapy (occurs at least 6-18 months, up to 10 years after)
• Anorexia nervosa
• Craniopharyngioma and other tumors
• Infiltrative diseases

• Androgen replacement therapy is administered via intramuscular injections every 15 days to 3 weeks (an oral form exists).
• Androgen replacement therapy is contraindicated in cases of prostate cancer.
• Gynecomastia may occur at the beginning of androgen treatment and is spontaneously reversible.
• In the absence of contraindications and desire for procreation, the replacement therapy is maintained for life.

• Hot flashes
• Decrease in 17β E2
• Elevation of gonadotropins

• Absence of hot flashes
• Frequency of galactorrhea
• Possible association with other deficits
• Decrease in all hormonal dosages

• By measuring decreased levels of 17β estradiol.

• Menopause
• Ovarian insufficiency

• Congenital: Kallmann syndrome (Morsier syndrome) in females
• Acquired: Organic causes from the hypothalamus (craniopharyngioma, arachnoiditis, etc.)

Turner syndrome is characterized by:

• Impuberty associated with short stature
• Malformative syndromes (dysmorphies) such as webbed neck and cubitus valgus
• Possible onset of puberty with minimal breast and hair development followed by cessation
• Negative Barr chromatin and confirmed by karyotype, typically 45X or a mosaic with 45X (e.g., 45X/46XY)

Menopause is an inevitable physiological phenomenon occurring around the age of 50, due to:

• Exhaustion of the follicular reserve
• Development of resistance to gonadotropins

Pituitary adenomas can be classified based on:

1. Functional characteristics:

   • Functional adenomas: thyrotropic, corticomelanotropic, gonadotropic, somatotropic, prolactin, mixed
   • Non-functional adenomas

2. Size:

   • Microadenoma: <10 mm
   • Macroadenoma: >10 mm

3. Tumor boundaries:

   • Enclosed adenomas
   • Invasive adenomas

The triad of symptoms for pituitary tumor syndrome includes:

1. Headaches:

   • Typically persistent and resistant to usual treatments
   • Often frontal or retro-orbital, especially in macroadenomas

2. Visual disturbances:

   • Progressive onset, affecting visual fields, visual acuity, diplopia, and color vision

3. Anterior pituitary insufficiency:

   • Can be global or dissociated

The recommended assessment for a pituitary adenoma includes:

1. MRI of the hypothalamic-pituitary region: Preferred examination, sometimes complemented by a CT scan for better analysis of bony structures.
2. Hormonal assessment: To evaluate pituitary function.
3. Ophthalmological assessment: To check for visual disturbances.

• Amenorrhea-galactorrhea association: very common
• Amenorrhea: occurs in 90% of cases, can be primary if hyperprolactinemia starts before puberty
• Galactorrhea: spontaneous or provoked, unilateral or bilateral: 30-80% of cases
• Infertility: 30%, may be the only reason for consultation
• Vaginal dryness, dyspareunia, decreased libido
• Tumoral syndrome

• Decreased libido: 90%
• Erectile dysfunction: 80%
• Gynecomastia, galactorrhea: less than 10%
• Infertility: 1 to 5%
• Tumoral syndrome: often, the consequences of tumor volume lead to the diagnosis of a prolactinoma in men

• Acquired hypertrophy of the face and extremities: prognathism, ring sign
• Deformed trunk: high dorsal kyphosis
• Arthropathies of large joints with chronic pain
• Possible lumbar canal syndrome + carpal tunnel syndrome
• Weight loss despite robust appearance
• Secondary hypertension + glucose intolerance or diabetes
• Cardiovascular manifestations: leading cause of mortality
• Primary hyperparathyroidism in the context of NEM 1

• GH dosage
• IGF-1 dosage
• Complete hypophysiogram
• Polysomnography (for sleep apnea syndrome)

• Pale face with a juvenile and expressionless appearance
• Thin, atrophic, dry skin with facial hypopilosity
• Brittle, fine hair
• Apathetic, asthenic, indifferent, sensitive to cold
• Absence of lactation and return of menstruation in distant medical history
• Hypophyseal necrosis: more or less massive, often due to postpartum hemorrhage or cardiovascular collapse
• Paraclinical: MRI of the hypothalamic-pituitary area

• Pituitary apoplexy is due to sudden hemorrhagic necrosis of the adenoma or acute intra-adenomatous bleeding. It requires immediate neurosurgical intervention due to the risk of severe complications.

Central hypothyroidism can reveal or complicate a known adenoma, leading to severe headaches, visual disturbances such as diplopia due to cavernous sinus compression, or visual field loss due to chiasm compression, and may also present signs of intracranial hypertension.

Central hypothyroidism is almost always associated with other pituitary deficits and can have various etiologies, including:

1. Pituitary Origin:

   • Tumoral causes: macroadenomas, intrasellar metastases (especially from breast and kidney cancers)
   • Vascular causes: Sheehan's syndrome
   • Iatrogenic causes: pituitary surgery, radiotherapy, prolonged corticosteroid therapy (leading to isolated corticotropic deficit)
   • Inflammatory or infectious causes: pituitary granulomas, hypophysitis
   • Systemic diseases: hemochromatosis may cause gonadotropic deficit
   • Trauma: affecting the pituitary, hypothalamus, or pituitary stalk section.

2. Hypothalamic Origin:

   • Tumoral causes: craniopharyngiomas, germinomas, gliomas, meningiomas
   • Systemic diseases: sarcoidosis, Langerhans cell histiocytosis, tuberculosis
   • Kallmann syndrome of Morsier
   • Other congenital causes of hypogonadotropic hypogonadism.