ECE2021 Audio Eposter Presentations Late Breaking (114 abstracts)
1Shahid Beheshti University of Medical Sciences, Tehran, Iran; 2Qazvin university of medical sciences, Children Growth Research Center, Research Institute for Prevention of Non-Communicable Diseases, Qazvin University of Medical Sciences, Qazvin, Iran, Qazvin, Iran
Introduction
Deficiency of 17- beta hydroxysteroid dehydrogenase 3 (17-HSD 3) is a rare autosomal recessive disorder which causes sexual ambiguity in fetuses with 46XY karyotype. Pathogenic mutations in the 17βHSD-3 gene (MIM# 264300) are associated with impaired sexual development of the 46, XY fetus. Here, we describe the clinical and genetic findings of a large family with several 46xy cases with a new mutation in 17-β-HSD3 gene in Qazvtn, Iran.
Case reports
Proposita was a 11-year-old girl who was referred for examination due to the infertility of her aunts. The external genitalia were completely female and had a short vaginal pouch. The testicles were not found on examination. She had palpable gonads in her inguinal area and at the age of two underwent bilateral orchiectomy. Other physical examinations were normal. In pelvic sonography, uterine and ovarian were not seen. Her peripheral blood karyotype was 46xy. Three of the patients aunts and the patients mothers aunt also had had similar findings (Fig.1)
Figure 1: Pedigree
Method and Material
To determine the molecular etiology, whole-exome sequencing (WES) was performed.
Results
We identified a novel homozygous missense variation (c.731T>A, p. Ile244Lys) in HSD17B3 gene. This alteration changes Isoleucine to Lysine in exon 10. This variation which has not been reported before is predicted to be a variant of unknown significance (VUS) based on computational analysis.
References
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