A 23 year old tall male presents with complaints of absent pubic hair, axillary hair, infantile genitalia, high LH, FSH levels and XXY karyotype. What is the most probable diagnosis?
Correct Answer: Klinefelter syndrome
Description: * Klinefelter syndrome 47XXY C/F Vanishing Testis Syndrome- absence or an incomplete development of testis of varying degrees in 46 XY patient with normal external genitalia Noonam Syndrome Inheritance: Autosomal Dominant; occur in males as well as females Sho stature, webbed neck; cubitus valgus Karyotype: Normal Feility: Delayed pubey but feility preserved Intelligence: Low IQ Most common hea disease: Pulmonary stenosis *** Adrenal Hyperplasia Coisol deficiency - hypoglycemia, inability to withstand stress, vasomotor collapse, hyperpigmentation, apneic spells, muscle weakness & fatigue Aldosterone deficiency - hyponatremia, hyperkalemia, vomiting, urinary sodium wasting, salt craving, acidosis, faikure to thrive, volume depletion, hypotension, dehydration, shock diarrhea. Androgen excess - ambiguous genitalia, virilization of external genitalia, hirsutism, early appearance of pubic hair, penile enlargement, excessive height gain and skeletal advance. Late onset CAH - normal genitalia, have acne, hirsutism, irregular menses / amenorrhea.
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