Confirmation of congenital hypogonadotropic hypogonadism during the third decade of life: frame of co-morbidities and complications

We aim to introduce two cases with late diagnosis of congenital hypo-gonadotropic hypogonadism (HH). A 28-year female is admitted for infertility. At age of 15 she had primary amenorrhea thus she was referred for an endocrine check-up. At that moment, a pituitary computed tomography revealed empty sella; she was offered oral contraceptives with menses induction which the patient continued until present time. She had no menses if the medication was stopped. On admission, the clinical exam revealed normal female phenotype. Hormonal panel indicated HH without stimulation. Ultrasound showed hypoplasic uterus. She was further referred for a fertility centre to achieve pregnancy by ovulation stimulation procedures. A 21-year male is admitted for short stature. By the age of 3, he suffered 4 surgical procedures for bilateral cryptorchidism without improvement. Around the age of 8, dwarfism was recorded without further investigations. He is a heavy smoker since the age of 9 and affirms daily alcohol consumption since the age of 18. His IQ is 61. On admission, dwarfism (-4 SD) and Tanner stage P0 G1 was identified together with low IGF-1 and non-stimulated growth hormone after insulin stimulation; also secondary adrenal insufficiency hypothyroidism, hypogonadism (with open growth cartilages) are confirmed. Daily treatment with subcutaneous growth hormone 0.035 mg kg, prednisone 5 mg and levothyroxine 50 μg was started for the moment. By these cases of everyday life medicine, we highlight the late diagnosis of otherwise genetic conditions. However, the female subject with central hypogonadism was treated over puberty and now she seeks fertility, making necessary a complex approach of ovarian stimulation procedures. The male patient associates a more severe frame: hypogonadotropic hypogonadism is associated with full blown picture of panhypopituitarism plus bilateral cryptorchidism, and mental development deficiencies.

Abbreviations: CT = computed tomography, FSH = Follicle Stimulating Hormone, FT4 = Free Thyroxine, GH = Growth Hormone, IGF1 = Insulin-Like Growth Factor-1, LH = Luteinizing Hormone, TSH = Thyroid Stimulating Hormone cm = centimeter