Short stature and azoospermia in a patient with Y chromosome long arm deletion

Journal of Endocrinological Investigation
M De RosaG Lombardi

Abstract

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, the patient showed height of 149 cm (< 1 degree centile) and reduced volume (3 ml) and consistency of the testes. On hormonal evaluation, he showed increased serum gonadotropins and normal serum testosterone levels though its HCG stimulated levels were limited. Serum thyroid hormones were normal. Serum GH levels in baseline evaluation as well as after GHRH and GHRH + pyridostigmine administration were normal. Serum IGF I levels were lower than normal in baseline evaluation whereas its response to the GH administration was in the normal range. The bilateral testicular biopsy showed tubular atrophy, hyalinosis, interstitial sclerosis and a histological picture of a Sertoli cell only syndrome. Moreover the patient showed arthropathy, otopathy, small chin, small mouth 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. In fact he preserved short arm SRY, centromeric DYZ3 and more proximal euchromatic region Yq loci, including DYS270, DYS271, DYS272, DYS11, DYS273, DYS274, DYS148, DYS275, and missed more distal DNA...Continue Reading

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Citations

Feb 4, 2010·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Lindsay C BurrageJoseph H Nadeau
Aug 12, 2014·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Manuel NistalMiguel Reyes-Múgica
Oct 26, 2018·Obesity Reviews : an Official Journal of the International Association for the Study of Obesity·V TamD Meyre
May 10, 2006·Prostate Cancer and Prostatic Diseases·A A EwisY Nakahori
Feb 28, 2001·Journal of Pediatric Endocrinology & Metabolism : JPEM·J I Botella-CarreteroR Barrio
Aug 8, 2019·Molecular Cytogenetics·Liliana Fernández-HernándezAriadna González-Del Angel
Jan 12, 2021·Journal of Assisted Reproduction and Genetics·Nasrin Ghanami GashtiMehdi Abbasi

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