Pubertal and Gonadal Outcomes in 46,XY Individuals with Partial Androgen Insensitivity Syndrome Raised as Girls.

IF 2.4 4区 医学 Q2 DEVELOPMENTAL BIOLOGY Sexual Development Pub Date : 2023-01-01 DOI:10.1159/000526997
Guilherme Guaragna-Filho, Gil Guerra-Junior, Rieko Tadokoro-Cuccaro, Ieuan A Hughes, Beatriz A Barros, Olaf Hiort, Antonio Balsamo, Tulay Guran, Paul M Holterhus, Sabine Hannema, Sukran Poyrazoglu, Feyza Darendeliler, Jillian Bryce, S Faisal Ahmed, Charmian A Quigley
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Abstract

Introduction: Although it was common in the 1970s-1990s to assign female gender of rearing to 46,XY infants with limited virilization of varying etiologies, including those with partial androgen insensitivity syndrome (PAIS), long-term data on outcomes for these individuals are sparse. Therefore, our goal was to use the power of an international registry to evaluate clinical features, surgical management, and pubertal data in patients with a molecularly confirmed diagnosis of PAIS who were born before 2008 and were raised as girls.

Methods: The current study interrogated the International Disorders of Sex Development Registry for available data on management and pubertal outcomes in individuals with genetically confirmed PAIS who were raised as girls.

Results: Among the 11 individuals who fulfilled the key criteria for inclusion, the external masculinization score (EMS) at presentation ranged from 2 to 6 (median 5); 7 girls underwent gonadectomy before the age of 9 years, whereas 4 underwent gonadectomy in the teenage years (≥ age 13). Clitoral enlargement at puberty was reported for 3 girls (27%) who presented initially at the time of puberty with intact gonads. In the 9 individuals (82%) for whom gonadal pathology data were provided, there was no evidence of germ cell tumor at median age of 8.1 years. All girls received estrogen replacement, and 8/11 had attained Tanner stage 4-5 breast development at the last assessment.

Conclusion: In general, although it appears that female assignment in PAIS is becoming uncommon, our data provide no evidence to support the practice of prophylactic prepubertal gonadectomy with respect to the risk of a germ cell tumor.

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46,XY型部分雄激素不敏感综合征女孩的青春期和性腺结局。
虽然在20世纪70年代至90年代,将男性化程度有限的46,xy婴儿(包括部分雄激素不敏感综合征(PAIS))归为女性是很常见的,但这些个体的长期结果数据很少。因此,我们的目标是利用国际注册的力量来评估分子确诊的PAIS患者的临床特征、手术治疗和青春期数据,这些患者出生在2008年之前,被当作女孩抚养。方法:目前的研究询问了国际性发展障碍登记处的可用数据,这些数据是关于基因证实的PAIS个体的管理和青春期结局。结果:符合入选标准的11例患者,其外在男性化评分(EMS)在2 ~ 6分之间(中位数为5分);7名女孩在9岁前接受了性腺切除术,而4名女孩在青少年时期(≥13岁)接受了性腺切除术。据报道,青春期阴蒂肿大的3名女孩(27%)最初在青春期出现性腺完整。在提供性腺病理资料的9例个体(82%)中,在中位年龄8.1岁时没有生殖细胞肿瘤的证据。所有女孩都接受了雌激素替代治疗,其中8/11在最后一次评估时达到了Tanner 4-5期乳房发育。结论:总的来说,尽管PAIS中的女性分配似乎越来越不常见,但我们的数据没有提供证据支持预防性青春期前性腺切除术与生殖细胞肿瘤风险有关的做法。
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来源期刊
Sexual Development
Sexual Development 生物-发育生物学
CiteScore
4.00
自引率
4.30%
发文量
25
审稿时长
>12 weeks
期刊介绍: Recent discoveries in experimental and clinical research have led to impressive advances in our knowledge of the genetic and environmental mechanisms governing sex determination and differentiation, their evolution as well as the mutations or endocrine and metabolic abnormalities that interfere with normal gonadal development. ‘Sexual Development’ provides a unique forum for this rapidly expanding field. Its broad scope covers all aspects of genetics, molecular biology, embryology, endocrinology, evolution and pathology of sex determination and differentiation in humans and animals. It publishes high-quality original research manuscripts, review articles, short reports, case reports and commentaries. An internationally renowned and multidisciplinary editorial team of three chief editors, ten prominent scientists serving as section editors, and a distinguished panel of editorial board members ensures fast and author-friendly editorial processing and peer reviewing.
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