Endocrine Abstracts

Background: Innate, isolated hypogonadotropic hypogonadism is a rare disease and results in men in cryptorchidism and failed puberty. Migration leads to diagnosis of the disease also in developed countries only in adults.

Case: A 28-year-old man was sent for endocrine workup because of failed development of primary sexual characteristics and missing secondary sex characteristics. He grew up in a rural place in Sri Lanka, his brothers and sisters developed regular puberty. On his flight out of Sri Lanka he was diagnosed in an Arabian country for hypogonadotropic hypogonadism. They did a complete workup. An MRI scan showed an anatomically normal pituitary gland and normal pituitary function tests were found, except the gonadal axis. They could not detect any LH or FSH also Testosterone was below the assay detection limit. He received for several months treatment with choriogonadotropine. Subsequently treatment was not continued. Arriving in Switzerland he was sent to our department because of discrepancy between age and his juvenile appearance. On examination we found cryptorchidism, micropenis and absence of secondary sex characteristics. Sonography confirmed the clinical finding of not developed gonads (0.5ml volume) and cryptorchidism on the left side, chronological bone age was estimated of only 14 years after Greulich and Pyle. Pituitary function was intact except gonadal axis. We found him to be hyposmic. Fulfilling the criteria of a Kallmann syndrome. We started treatment with choriogonadotropine. After a few weeks his Testosterone rose (20 nmol/l) and the patient developed a puberty including vocal break. Notably was the descensus oft his gonads and the height gain in one year (159 cm to 164 cm). Genetic Evaluation is ongoing in a scientific study, results are pending.

Discussion: In hypogonadotropic hypogonadism endocrinological workup is essential to find the right diagnosis. Kallmann syndrome is a rare genetic disease, several genetic mutations are well known. These days in western countries the syndrome is often already diagnosed during childhood or in young males because of absent pubertal characteristics. A careful induction of treatment (testosterone or choriogonadotropine) is imperative because those adult men develop puberty. Treatment needs to be started early, so patients go through a normal pubertal development and reach a normal adult height.

Conclusion: In adults with clinical suspicion pituitary function tests have to be done and a careful workup is needed to ascertain the correct diagnosis. Rare diagnosis can be found in fugitives, presenting in older age with sicknesses diagnosed normally earlier in life.