دورية أكاديمية
Pubertal and Gonadal Outcomes in 46,XY Individuals with Partial Androgen Insensitivity Syndrome Raised as Girls.
| العنوان: | Pubertal and Gonadal Outcomes in 46,XY Individuals with Partial Androgen Insensitivity Syndrome Raised as Girls. |
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| المؤلفون: | Guaragna-Filho G; Department of Pediatrics, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Guerra-Junior G; Interdisciplinary Group for Study of Sex Determination and Differentiation (GIEDDS), State University of Campinas, Campinas, Brazil., Tadokoro-Cuccaro R; Department of Paediatrics, University of Cambridge, Cambridge, UK., Hughes IA; Department of Paediatrics, University of Cambridge, Cambridge, UK., Barros BA; Interdisciplinary Group for Study of Sex Determination and Differentiation (GIEDDS), State University of Campinas, Campinas, Brazil., Hiort O; Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, University of Lübeck, Lübeck, Germany., Balsamo A; Department of Medical and Surgical Sciences, Pediatric Unit, Center for Rare Endocrine Conditions (Endo-ERN), S.Orsola-Malpighi University Hospital, Bologna, Italy., Guran T; Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, School of Medicine, Marmara University, Istanbul, Turkey., Holterhus PM; Department of Pediatrics, Pediatric Endocrinology and Diabetes, University Hospital of Schleswig-Holstein, UKSH, Campus Kiel, Kiel, Germany., Hannema S; Department of Paediatrics, Leiden University Medical Centre, Leiden, The Netherlands.; Expertise Center DSD and Department of Paediatric Endocrinology, Sophia Children's Hospital, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, The Netherlands., Poyrazoglu S; Department of Pediatrics, Pediatric Endocrinology Unit, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Darendeliler F; Department of Pediatrics, Pediatric Endocrinology Unit, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Bryce J; Office for Rare Conditions, University of Glasgow, Glasgow, UK., Ahmed SF; Office for Rare Conditions, University of Glasgow, Glasgow, UK.; Developmental Endocrinology Research Group, University of Glasgow, Glasgow, UK., Quigley CA; Department of Endocrinology, Sydney Children's Hospital, Randwick, New South Wales, Australia. |
| المصدر: | Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation [Sex Dev] 2023; Vol. 17 (1), pp. 16-25. Date of Electronic Publication: 2023 Mar 14. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101316472 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1661-5433 (Electronic) Linking ISSN: 16615425 NLM ISO Abbreviation: Sex Dev Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Basel ; New York : S. Karger, 2007- |
| مواضيع طبية MeSH: | Androgen-Insensitivity Syndrome*/pathology , Neoplasms, Germ Cell and Embryonal*/pathology, Male ; Infant ; Adolescent ; Humans ; Female ; Child ; Gonads/pathology ; Castration ; Sexual Development |
| مستخلص: | 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. (© 2023 S. Karger AG, Basel.) |
| معلومات مُعتمدة: | G1100236 United Kingdom MRC_ Medical Research Council; United Kingdom DH_ Department of Health |
| فهرسة مساهمة: | Keywords: Androgen insensitivity syndrome; Differences of sex development; Disorders of sex development; Partial androgen insensitivity syndrome; Puberty |
| تواريخ الأحداث: | Date Created: 20230314 Date Completed: 20230809 Latest Revision: 20230810 |
| رمز التحديث: | 20230811 |
| DOI: | 10.1159/000526997 |
| PMID: | 36917969 |
| قاعدة البيانات: | MEDLINE |
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