A Search for Disorders of Sex Development among Infertile Men
| العنوان: | A Search for Disorders of Sex Development among Infertile Men |
|---|---|
| المؤلفون: | Gil Guerra-Júnior, Mara Sanches Guaragna, Lizandra Maia de Sousa, Andréa Trevas Maciel-Guerra, Tais Nitsch Mazzola, Rafael Shiniti Yabiku, Cristiane S C Piveta, Maricilda Palandi de Mello, Helena Fabbri-Scallet, Marcela de Souza |
| المصدر: | Sexual Development. 12:275-280 |
| بيانات النشر: | S. Karger AG, 2018. |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | Embryology, Mild androgen insensitivity syndrome, Pediatrics, medicine.medical_specialty, 030219 obstetrics & reproductive medicine, Y chromosome microdeletion, Endocrinology, Diabetes and Metabolism, Gonadal dysgenesis, 030209 endocrinology & metabolism, Biology, medicine.disease, Male infertility, 03 medical and health sciences, 0302 clinical medicine, Hypergonadotropic hypogonadism, Microorchidism, medicine, Disorders of sex development, Klinefelter syndrome, medicine.symptom, Developmental Biology |
| الوصف: | A retrospective cross-sectional study was performed in a DSD clinic at a tertiary service (University Hospital) to estimate the frequency of disorders of sex development (DSD) among men who seek medical care because of infertility. The sample included 84 men >20 years of age referred from 2010-2017 due to oligozoospermia or nonobstructive azoospermia of unknown etiology. Twelve cases (14%) were diagnosed as DSD, including Klinefelter Syndrome, 46,XX testicular DSD, and mild androgen insensitivity syndrome. Y chromosome microdeletions were detected in 2 patients. Among the remaining 70 cases there were patients with chromosome abnormalities which are not included in the DSD classification as well as rare NR5A1 variants of uncertain significance and hypergonadotropic hypogonadism and microorchidism in 46,XY subjects. In conclusion, the frequency of DSD in this study was 14%, consisting mainly of sex chromosome abnormalities but also 46,XX and 46,XY DSD. However, this figure may increase as further investigations are conducted in idiopathic cases with signs of primary testicular failure, which may present partial gonadal dysgenesis. |
| تدمد: | 1661-5433 1661-5425 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5307d3d7965781371415891d81b5cff https://doi.org/10.1159/000493877 |
| حقوق: | CLOSED |
| رقم الأكسشن: | edsair.doi.dedup.....a5307d3d7965781371415891d81b5cff |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 16615433 16615425 |
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