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?
Vanishing testis syndrome
Noonan syndrome
Adrenal hyperplasia
Klinefelter syndrome
* 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.
Miscellaneous