Baseline Characteristics of Infants With Atypical Genital Development: Phenotypes, Diagnoses, and Sex of Rearing
Baseline Characteristics of Infants With Atypical Genital Development: Phenotypes, Diagnoses, and Sex of Rearing
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DOI：
10.1210/js.2018-00316
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发表时间：
2019-01-01
影响因子：
4.1
通讯作者：
Cheng, Earl Y.
中科院分区：
文献类型：
--
作者：
Finlayson, Courtney;Rosoklija, Ilina;Cheng, Earl Y.
目的：人们对美国生殖器发育不典型婴儿的表型、诊断和抚养性别知之甚少。作为这些婴儿多中心研究的一部分，我们提供了来自美国性发育差异/紊乱诊所的基线报告，描述了诊断、解剖特征和抚养性别。我们还确定了美国性别指定是否遵循共识指南。方法：符合条件的参与者患有中度至重度生殖器异型性，年龄为 3 岁，并且之前未接受过生殖器成形术。收集核型、遗传诊断、性发育差异/紊乱病因、家族史和抚养性别。进行标准化检查。结果：92例受试者中，核型为46，XX的占57％，46，XY的占34％，性染色体异常的占9％。基线评估时的中位年龄为 8.8 个月。大多数 46,XX 受试者 (91%) 患有先天性肾上腺增生 (CAH)，大多数 46,XY 受试者 (65%) 没有已知的诊断。两名患有 CAH 的个体在出生后 2 周内经历了从男性到女性的抚养性别变化。子宫的存在和较短的阴茎长度与抚养的女性有关。最常见的核型和诊断是 46,XX 伴 CAH，其次是 46,XY 伴诊断未知。从表型上看，非典型生殖器最常见的特征是异常的阴唇组织、阴茎长度和尿道口位置。结论：阴茎长度的增加与抚养男性呈正相关。在所研究的美国中心中，性别指定遵循共识声明的建议。需要进一步研究以确定这是否会导致患者满意度。版权所有 (C) 2019 内分泌学会。
Purpose: Little is known about the phenotypes, diagnoses, and sex of rearing of infants with atypical genital development in the United States. As part of a multicenter study of these infants, we have provided a baseline report from US difference/disorder of sex development clinics describing the diagnoses, anatomic features, and sex of rearing. We also determined whether consensus guidelines are followed for sex designation in the United States.Methods: Eligible participants had moderate-to-severe genital atypia, were aged, 3 years, and had not undergone previous genitoplasty. Karyotype, genetic diagnosis, difference/disorder of sex development etiology, family history, and sex of rearing were collected. Standardized examinations were performed.Results: Of 92 subjects, the karyotypes were 46,XX for 57%, 46,XY for 34%, and sex chromosome abnormality for 9%. The median age at the baseline evaluation was 8.8 months. Most 46,XX subjects (91%) had congenital adrenal hyperplasia (CAH) and most 46,XY subjects (65%) did not have a known diagnosis. Two individuals with CAH underwent a change in sex of rearing from male to female within 2 weeks of birth. The presence of a uterus and shorter phallic length were associated with female sex of rearing. The most common karyotype and diagnosis was 46,XX with CAH, followed by 46,XY with an unknown diagnosis. Phenotypically, atypical genitalia have been most commonly characterized by abnormal labioscrotal tissue, phallic length, and urethral meatus location.Conclusions: An increased phallic length was positively associated with rearing male. Among the US centers studied, sex designation followed the Consensus Statement recommendations. Further study is needed to determine whether this results in patient satisfaction. Copyright (C) 2019 Endocrine Society.