ESPE2023 Poster Category 1 Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology (56 abstracts)
Retrospective Analysis of Individuals with Differences in Sex Development (DSD) in a Brazilian Single-Center Study Across the Lifespan
Rafael Batista 1 , Nathalia Gomes 2 , Tania Bachega 1 , Guiomar Madureira 1 , Mirela Miranda 1 , Renata Dallago 1 , Maria Teresa Ferrari 1 , Lia Lousada 1 , Flora Craveiro 1 , Julio Batatinha 1 , Renata Scalco 1 , Alexander Jorge 1 , Elaine Costa 1 , Maria Helena Sircili 1 , Francisco Denes 1 , Marlene Inacio 1 , Mirian Nishi 1 , Sorahia Domenice 1 & Berenice Mendonca 1
1FMUSP, Sao Paulo, Brazil. 2UFMG, Belo Horizonte, Brazil
Context: Differences in sex development (DSD) represent a broad spectrum of conditions that can present at different ages to various healthcare professionals with different backgrounds.
Design: This is a retrospective, observational cohort that includes all DSD subjects referred to a multi-professional DSD team over a period of 41 years (from 1980 to 2021).
Participants: A total of 696 subjects were included in the study.
Outcome Measures: The data collected included DSD diagnosis, age at diagnosis, sex assignment, clinical presentation, and phenotypic features.
Results: The subjects in this study presented at prepubertal, post-pubertal, and adult ages, often with atypical genitalia, undescended testes, or primary amenorrhea. Of the three major DSD categories, sex chromosome DSD was diagnosed in 264 subjects (135 with 45,X karyotype), with 101 being mosaics (45,X/46,Xi(Xq)) and three having chimerism (all ovotesticular DSD). Among the four ovotesticular DSD subjects, three were raised as females and one was raised as male, with no gender changes occurring in this group. Thirteen chromosome DSD patients with Y material were assigned as male, and two female-assigned patients changed their gender to male. 258 subjects had 46,XY DSD (69 unknown DSD, 64 gonadal dysgenesis, 36 5-αRD2 deficiency, 18 17β-HSD3 deficiency, 11 17α-hydroxylase deficiency, 9 Leydig cell hypoplasia, 25 CAIS, 18 PAIS, 8 AMH defects). Among the 192 XY subjects with atypical genitalia, the sex of rearing was female in 89 (46%), and gender change from female to male occurred in 13%, most commonly in 5-αRD2 deficiency (45%) followed by 17β-HSD3 deficiency (33%). Among those raised as male, only 2.9% changed their gender. 46,XX DSD was diagnosed in 178 patients. Congenital adrenal hyperplasia-CAH (most commonly 21-hydroxylase deficiency) was diagnosed in 123 patients (115 female-assigned). Among the CAH cases, gender change from female to male occurred in six cases, of which most had simple virilizing (VS) form (5/6; P=.004), a late onset of treatment (>2 years old), and poor compliance. Among the remaining 55 patients with 46,XX DSD, 24 had ovotesticular DSD (all with atypical genitalia), and 16 had 46,XX testicular DSD (seven with atypical genitalia). In conclusion, gender change from female to male was mainly observed among subjects with 46,XY DSD, particularly in those with 5α-RD2 and 17β-HSD3 deficiency, indicating that male sex assignment may be preferable for patients with these diagnoses. Among 46,XX DSD, the SV form of CAH, late initiation of treatment, and poor compliance were associated with female-to-male gender change.
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