Background:Isolated hypogonadotropic hypogonadism (IHH), called idiopathic or congenital hypogonadotropic hypogonadism (CHH) is a condition due to deficiency or insensitivity to gonadotrophin releasing hormone (GnRH).
Case Summary:A 25 yr old graduated man presented with gynaecomastia and poor development of secondary sexual characteristics. He had no experience of shaving since adolescence and easy fatigue, palpitation and dyspnoea on exertion.Examination revealed 5’ 8” tall, arm spam- 70 inches, BMI 24.3 kg/m2 , BP – 110/80 mmHg, HR- 68/min, clinically Heart & Lungs - normal, absence of male pattern hairs, gynaecomastia on both sides, small male secondary sex characters. Laboratory tests showed CBC normal, ESR 27, U&C, sugar, lipid profile normal, FT3 5.42 , FT4 17.38 , TSH 2.14 , Cortisol 592.6 , FSH 2.49, LH 2.71 , Testosterone 0.26 , Prolactin 99.13 , Semen analysis could not be done, chromosome study 46XY.USG(Breast)showed no definite breast lump. USG(Scrotum) revealed Rt Testes 3.4×1.4×2.1cm size, vol 5.2 ml, Lt Testes 3.1×1.2×2.1cm size, vol 4.3ml. Normal outlines and echo texture with tiny calcified foci in both. Echocardiogram revealed normal valves and chambers, EF 70%. NECT and CECT of head, neck and chest showed normal. No suprasella and intrasella calcification. Pituitary gland was normal. No mass and calcification. Both thyroids were normal. NECT and CECT of abdomen and pelvis showed Liver - normal. No SOL. Few small intrahepatic bile duct stones or calcifications in right hepatic lobe. MRI brain scan revealed no abnormality in brain and pituitary. On Bone Densitometry, T score was - 0.5 (Osteopenia). ECG was NAD.
The goals of therapy are to replace or restore sex steroid hormones and to induce and maintain normal reproductive function. He was given IM Testosterone enanthate 250 mg every 3 weeks. If fertility is desired, pulsatile GnRH therapy or gonadotropin is necessary.