ArticleAnnals of pediatric endocrinology & metabolism2025
Phenotypic spectrum and long-term outcomes of patients with 46,XX disorders of sex development.
Article in Annals of pediatric endocrinology & metabolism, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Spectrum of disorders of sexual development in Duhok, Iraq (2012-2022): molecular and clinical profile with surgical outcomes.Hormone molecular biology and clinical investigation · 2026Article
- Long-term outcomes in ovotesticular DSD: insights from a single-centre Indian cohort.Journal of pediatric endocrinology & metabolism : JPEM · 2026Article
- Long-term Outcomes of Gender Decisions in Differences of Sex Development (DSD) from an Indian Perspective: A Multicenter Study.Journal of Indian Association of Pediatric SurgeonsArticle
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5 authors.
Funding
Abstract
purpose46,XX disorders of sex development (DSD) involve atypical genitalia accompanied by a normal female karyotype. This study was performed to investigate the clinical characteristics and long-term outcomes of patients with 46,XX DSD.
methodsThe study included 34 patients with 46,XX DSD who presented with ambiguous genitalia or delayed puberty. Patients with congenital adrenal hyperplasia were excluded. Clinical phenotypes and overall outcomes were analyzed retrospectively.
resultsAge at presentation ranged from birth to 40 years (median, 0.6 years), and the follow-up period ranged from 0.3 to 29.7 years (median, 8.8 years). Twenty patients were assigned female (58.8%). Etiologies included disorders of gonadal development (n=22), exogenous androgen exposure during pregnancy (n=5), association with syndromic disorders or genital anomalies (n=2), and unclassified causes (n=5). Ovotestis was the most frequent gonadal pathology (41.7%). Müllerian duct remnants were usually underdeveloped (52.9%) or absent (23.5%). Spontaneous puberty occurred in 17 of the 21 patients of pubertal age, while 9 patients required sex hormone replacement therapy. Gonadal complications were observed in 4 patients (gonadal tumors [n=3], and spontaneous gonadal rupture [n=1]), and gender dysphoria occurred in 1 patient who was assigned male.
conclusionThis study described the wide phenotypic spectrum and pubertal outcome of patients with 46,XX DSD. Long-term multidisciplinary monitoring for pubertal development, fertility, gender identity, and gonadal complications is recommended.
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