ECE2022 Poster Presentations Reproductive and Developmental Endocrinology (61 abstracts)
Y-chromosome disomy and sexual ambiguity
Yosra Hasni 1,2 , Oumayma Zarrouk 1 , Samia Tilouche 2,3 , Hamza Elfekih 1,2 , Hayfa Farid 1 , Amel Maaroufi 1,2 , Maha Kacem 1,2 , Molka Chadli Chaieb 1,2 & Koussay Ach 1,2
1Farhat-Hached University Hospital, Endocrinology-Diabetology Department, Sousse, Tunisia; 2Faculty of Medicine Ibn El Jazzar, University of Sousse, Sousse, Tunisia; 3Farhat-Hached University Hospital, Pediatrics department, Sousse, Tunisia
Introduction: Chromosomal abnormality 47, XYY, despite being present in approximately 1 in 1000 newborn boys, remains less known phenotypically and more than 85% of men are never diagnosed. Males with 47, XYY syndrome are described to be phenotypically normal. They present often a developmental delay, behavioral difficulties and learning disabilities that may be associated with accelerated growth rate and taller stature in adulthood. Endocrine disorders, especially pubertal delay, are rarely described in patients with this karyotype. We report the case of a boy who had at birth sexual ambiguity revealing a 47, XYY karyotype.
Observation: A 13-year-old boy was found at birth to have sexual ambiguity with a 1.5 cm micropenis and empty scrotum. Imaging ruled out the presence of female external genitalia and concluded to bilateral cryptorchidism. 17-OH Progesterone was normal at 0.5 ng/ml ruling out 21-hydroxylase deficiency. Testosterone, DHT, delta 4-androstenedione and DHEA-sulfate were normal with a testosterone/DHT ratio < 20. Genetic analysis revealed 47, XYY karyotype. He received βHCG injections and had a surgery for the micropenis and bilateral cryptorchidism. The child does not have psychomotor or growth disorders. He is still prepubescent (Tanner staging: P1/G1) with a penis size of 4.5 cm. Hormonal exploration revealed FSH=0.9 mUI/ml, LH=0.4 mUI/ml with testosterone < 0.1 ng/ml and a bone age less than 13 years, requiring monitoring to detect early a possible pubertal delay.
Discussion: 47, XYY karyotype is a rare anomaly in which gonadal function is generally intact. However, a higher incidence of infertility was noted in men who carry this genetic abnormality. The association of this karyotype with micropenis and pubertal delay was also described in the literature as a possible cause of this chromosomal anomaly.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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