Endocrine Abstracts

17 year old male was referred by GP with short stature and delayed development of secondary sex characteristics.

History: He was born at full term with a bodyweight of eight pounds and normal development till adolescence. He is the second out of three children and as his parents and siblings entered puberty at expected ages and he has not suffered from the chronic illness make constitutional delay of puberty or functional hypothalamic hypogonadism less likely. He is working as a chef and reported no problem with a sense of smell.

Examination: On examination, his body weight was 73.6 kilograms with a height of 159.3 centimeters with a BMI of 29. The baseline pubertal staging was Stage 3 Tanner 2 with four milliliters testes, five centimeters penis, minimal coarse hair at the base of the penis, and no evidence of hair growth in other parts of the body.

Investigations: ACTH (0-46) :25 ng/l TSH (0.34-5.6) :1.55 mu/l T4 (7.9-13.6) :12.3 pmol/l FSH :1.2 iu/l LH. :0.6 iu/l Testosterone. :1.8 nmol/l IGF-1 :26.5 nmol/l Prolactin :127 mu/l Cortisol :378 nmol/l HCG :<0.5 17-OH :<0.2 Bone age on radial X-ray: Chronological age - 17 years and 6 months, Bone age -15 years. MRI pituitary: small anterior pituitary gland, no adenoma. Genetic testing: Kallmann syndrome 5 genes panel - no mutation.

Treatment: Puberty induction was started with intramuscular testosterone (Sustanon) injection of 50 mg for four months followed by 75 mg for four months followed by 150 mg for four months until the full dose of 250 mg. He was aware that family planning involves discontinuation of testosterone injection and spermatogenesis stimulation with HCG/FSH injections or TESE (Testicular sperm extraction). There was an improvement in testicular volume (8 milliliters), penis size, and density of pubic hair (Tanner stage IV) approximately twelve months of treatment, and a trial of discontinuing the testosterone was made to access reversibility of hypogonadism. Unfortunately, the patient missed appointments and was reviewed twelve months later. The repeat blood tests after stopping the treatment showed testosterone of 1.6 with FSH 0.9 iu/l and LH of 0.8 iu/l. Diagnosis of permanent hypogonadotropic hypogonadism (likely congenital) was made and intramuscular testosterone (Sustanon) was restarted. The treatment was changed to twelve weekly testosterone undecanoate (Nebido) injections when there was a good level of testosterone.