Endocrine Abstracts

A 31-year-old gentleman presented to our Endocrine Services with his 20-year-old fiancée with plans for marriage and to conceive. He was diagnosed with congenital panhypopituitarism and absent pituitary stalk at the age of 4. He was started on replacement growth hormone, desmopressin, levothyroxine, hydrocortisone and testosterone, in this sequence, across the years. He underwent induction of puberty at the age of 13 years. He was noticed to have bilateral cryptorchidism that failed to descend with 6 months of hCG monotherapy and underwent successful orchidopexy at the age of 15. His fiancée was a healthy, young lady with normal reproductive hormones and tubal patency confirmed on investigation. On examination he was well virilised, had a well-developed phallus and a normal BMI. Testicular examination showed small testicular volume at 2mls on the right and 5mls on the left. He reported normal libido and erectile function. Clinic discussions were held and the possibility of passing on the congenital condition to the offspring was accepted. Following baseline investigations, he proceeded to spermatogenesis induction with subcutaneous gonadotrophin injections starting as human menopausal gonadotrophin (hMG) 150IU three times weekly and recombinant human chorionic gonadotrophin (r-hCG) 2080IU twice weekly, monitored by 3-4 monthly visits. A sperm analysis around 20 months into treatment encouragingly showed evidence of sperm although the count was low. The couple preferred to continue to try for natural fertilisation methods. Approaching the end of the third year, there was no improvement in testicular volume or sperm analysis. There was a hint of a positive pregnancy line on one occasion which faded after some days indicating the pregnancy was not successful. On starting the fourth year, they had stored sperm of sufficient quality to give them an estimated 45% chance of pregnancy with IVF. They decided to proceed with assisted fertilisation techniques like IVF with ICSI. This case highlights the workup and management of an infertile couple with known congenital combined pituitary deficiency, achieving spermatogenesis through gonadotrophin therapy, managed through outpatient appointments in secondary NHS care and fertility services.