Puberty in Patients with Ovotesticular DSD: Evaluation of 20 Patients and Review of the Literature.

4区医学 Q2 Medicine

Pediatric endocrinology reviews : PER Pub Date : 2020-06-01 DOI:10.17458/per.vol17.2020.msc.pubertyovotesticulardsd

Julia Warchavchik Melardi, Diego Fontana Siqueira Cunha, Leandra Steinmetz, Durval Damiani

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引用次数: 1

Abstract

Background: Ovotesticular Difference of Sex Development (OT DSD) is a rare condition characterized by histologic demonstration of ovarian and testicular tissue in the same individual. Descriptions in literature usually do not include long term follow-up data.

Objectives: The aim of this study is to describe clinical, biochemical and histological findings, as well as long term outcomes (including onset and progression of puberty) in patients with OT DSD.

Results: In a retrospective study of 31 patients, findings include predominantly male gender assignment at the time of referral (54.8%) and subsequent female gender of rearing (54.8%). The most frequent karyotype was 46,XX (58.1%). Ovotestis was the most frequent gonad (48.4%) Puberty could be evaluated in 20 patients, being spontaneous in 12 of them. Four patients with partial gonadectomy in infancy were able to enter female puberty spontaneously.

Conclusion: It was observed that patients who preserved gonadal tissues were able to enter puberty spontaneously.

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20例卵泡睾丸发育障碍患者的青春期分析及文献复习。

背景:卵睾丸性发育差异(OT DSD)是一种罕见的疾病，其特征是卵巢和睾丸组织在同一个体中出现组织学表现。文献中的描述通常不包括长期随访数据。目的:本研究的目的是描述OT - DSD患者的临床、生化和组织学结果，以及长期结局(包括青春期的发生和进展)。结果:在对31例患者的回顾性研究中，发现在转诊时主要为男性(54.8%)，随后为女性(54.8%)。最常见的核型为46,xx(58.1%)。卵巢是最常见的性腺(48.4%)。20例患者可评估青春期，其中12例为自发性腺。4例婴儿期部分性腺切除术患者能够自发进入女性青春期。结论:保留性腺组织的患者能够自发进入青春期。

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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Pediatric endocrinology reviews : PER Medicine-Endocrinology, Diabetes and Metabolism

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期刊介绍： PEDIATRIC ENDOCRINOLOGY REVIEWS (PER) publishes scholarly review articles in all areas of clinical and experimental Endocrinology, Diabetes, Nutrition and Metabolism. PER is intended for practicing pediatricians, pediatric endocrinologists, pediatric diabetologists, pediatric gastroenterologists, neonatologists, pediatric gynecologists, nutritionists, sport physicians and pediatricians-in-training. PER will also publish topics on specific subjects or as proceedings of scientific meetings in the above fields of interest. All articles, whether invited or direct contributions, are peer-reviewed. PER publishes correspondence, book reviews, a meeting calendar and meeting reports.