Management challenges of disorders of sex development- Case Series

Q4 Medicine

Rwanda Medical Journal Pub Date : 2022-09-30 DOI:10.4314/rmj.v79i3.9

B. Tuyishimire, H. Irere, F. Rutagarama, A. Ndatinya, O. Karangwa, A. Gasana, C. Nsanzabaganwa, L. Mutesa

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引用次数: 0

Abstract

INTRODUCTION: Disorders of sex development (DSDs) are genetic abnormalities characterized by discordance between phenotypic, gonadal, and genetic sex. They are grouped into two categories based on karyotype: 46, XX DSD and 46, XY DSD.CASES: We reviewed two patients referred to the Rwanda Military Hospital genetic unit. The first patient was a 3-year-old toddler who was referred for confusing sex organs. Physical examination showed ambiguous genital organs with hypospadias and micropenis. Pelvic examination showed a swelling solid mass hat leading to a suspicion of ovary or undescended testes or combined ovary and testes (ovotestes). The second patient was a 17 years old teenager who presented with primary amenorrhea and lack of female secondary sexual characteristics at her age. The karyotype test was performed to investigate the genotypic sex of the patients and results revealed the karyotype formula of 46, XX/XY indicating the presence of two cell lines in the patient for the toddler and 46XYinv9 (p11q13) indicating the mismatch between the genotype and phenotype of the patients for the teenager. CONCLUSION: Patients were diagnosed with Disorder of Sex Development with 46, XX/XY and 46, XY genotypes respectively. A multidisciplinary team of a geneticist, urologist, endocrinologist and a psychologist reviewed the patient for the effective management.

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性发育障碍的管理挑战-案例系列

引言：性发育障碍是一种遗传异常，其特征是表型、性腺和遗传性别之间的不一致。根据核型将其分为两类：46，XX DSD和46，XY DSD。病例：我们回顾了两名转诊至卢旺达军事医院遗传单位的患者。第一例患者是一名3岁的幼儿，因混淆性器官而被转诊。体格检查显示生殖器模糊不清，伴有尿道下裂和微阴茎。盆腔检查显示有一个肿胀的固体肿块帽，导致怀疑是卵巢或未降睾丸或卵巢和睾丸结合（卵睾丸）。第二名患者是一名17岁的青少年，在她这个年龄段出现原发性闭经，缺乏女性第二性特征。进行染色体组型试验以研究患者的基因型性别，结果显示，46，XX/XY的染色体组型公式表明患者中存在两种细胞系（幼儿）和46XYinv9（p11q13），表明患者的基因类型和表型不匹配（青少年）。结论：46，XX/XY和46，XY基因型患者被诊断为性发育障碍。由遗传学家、泌尿科医生、内分泌学家和心理学家组成的多学科团队对患者进行了有效管理。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Rwanda Medical Journal Medicine-Medicine (all)

CiteScore

0.20

自引率

0.00%

发文量

审稿时长

7 weeks

期刊介绍： The Rwanda Medical Journal (RMJ), is a Not-For-Profit scientific, medical, journal that is published entirely online in open-access electronic format. The RMJ is an interdisciplinary research journal for publication of original work in all the major health disciplines. Through a rigorous process of evaluation and peer review, The RMJ strives to publish original works of high quality for a diverse audience of healthcare professionals. The Journal seeks to deepen knowledge and advance scientific discovery to improve the quality of care of patients in Rwanda and internationally.