SHORT STATURE AND AZOOSPERMIA IN A PATIENT WITH Y-CHROMOSOME LONG ARMDELETION

We report on a 42-year old male with short stature, azoospermia and a wide deletion of long arm of Y chromosome. On physical examination, th e patient showed height of 149 cm (<1 degrees centile) and reduced vol ume (3 ml) and consistency of the testes. On hormonal evaluation, he s howed increased serum gonadotropins and normal serum testosterone leve ls though its HCG stimulated levels were limited. Serum thyroid hormon es were normal. Serum GH levels in baseline evaluation as well as afte r GHRH and GHRH + pyridostigmine administration were normal. Serum IGF I levels were lower than normal in baseline evaluation whereas its re sponse to the GH administration was in the normal range. The bilateral testicular biopsy showed tubular atrophy, hyalinosis, interstitial sc lerosis and a histological picture of a Sertoli cell only syndrome. Mo reover the patient showed arthropathy, otopathy, small chin, small mou th and truncal obesity, On genetic evaluation, the patient showed a 46 ,X,delY(pter-->q11.1:) karyotype and loss of several DNA loci on Yq, I n fact he preserved short arm SRY, centromeric DYZ3 and more proximal euchromatic region Yq loci, including DYS270, DYS271, DYS272, DYS11, D YS273, DYS274, DYS148, DYS275, and missed more distal DNA loci from DY S246 to DYZ2. These results disclosed a wide Y long arm deletion, incl uding all hypothized Yq azoospermia loci (except for AZFa and probably for one of the RBM genes, which lie proximally to the deletion) and p ossibly the Y-specific growth control region (GCY), mapped between DYS 11 and DYS246 loci. This deletion is responsible for the complete azoo spermia of the patient and probably also for his short stature, even i f other factors could be implicated in the statural impairment, It fur ther possibly allowed to relate the GCY gene(s) to the control of GH o r IGF-I receptor or post-receptor pathway, being the alteration of thi s gene(s) consistent with the hormonal pattern of the patient. (C) 199 7, Editrice Kurtis.