ECE2018 Poster Presentations: Reproductive Endocrinology Male Reproduction (17 abstracts)
DicentricisochromosomeYp in adolescent with azoospermia
Fatma Loukil 1 , Mouna Elleuch 1 , Wafa Ben Othmen 1 , Fatma Mnif 1 , Ikhlas Ben Ayed 2 , Neila Belguith 2 , Mouna Mnif 1 & Mohamed Abid 1
Background: Azoospermia is present at approximately 1% of the man. karyotype can show number and structure abnormalities of the sexe chromosomes.
Case: 16 years old boy,who was refered to the departement of endocrinology for a failure to growth since 8 years old. This patient was resulting from a marriage between blood relations. He had a congenital bilateral hip luxation diagnosed since birth but untreated.He had a gait disorder with a low weight 32 kg <3 erd percentile and a short stature 134 cm <−3 S.D., the physicalexamination of the external genital was without anomalies. He did not have a particular endocrinal clinical disorders. The skeletal age determination was without evidence of disease.The hormonal profile was normal except these rum concentartion of follicule-stimulating hormone wich increased from 22 mUI/ml to 32 mUI/ml.The testis ultrasonography showed bilateral testis hypotrophy. A semen analysis was then required. It showed a depletion of sperm production 1.3 ml and azoospermia. The cytogenetic analysis carried out on peripheral lymphocyts with G banding revealed a 46,X, idic(Yp)(q11q22) karyotype. The rearrenged Y chromosome was accompagnied by a total duplication of the short arm Yp and a partial deletion of the long armYq.
Conclusion: This is the first report document in isochromosome Y with disruption in the SHOX, AZFb, AZFc gene area.The study is in hand to show if AZF region deletion is complete or partial.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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