Background: Disorders of sex development are anomalies in which the development of urogenital ridge is undifferentiated for the male and female child. Imaging plays a vital role in investigating the gross anatomy and associated anomalies. Ultrasonography, such as genitography and magnetic resonance, is the primary modality for demonstrating internal gonads and genitalia. Early multidisciplinary approach in the management of ambiguous genitalia including early surgical intervention is the predominant practice, with few current considerations on deferral of genital reconstruction until adolescent age.
Case Presentation: We report the rare case of a 24-year-old adult female from a majority ethnic group of the Volta region, Ghana who was diagnosed and raised as male, now requiring surgical restoration to the female gender. The surgical team decided to assign external genitalia to correspond with the already intact internal organs, thus constructing the vulva. Consent was given by the client and her family members for management and surgical intervention. The surgery was scheduled and duly performed with a successful outcome. Understanding and consent was sought from the patient for the purpose of using her images for teaching, scientific publication, and demonstrations.
Conclusion: The advantages of deferring surgical reconstruction with psychological counseling after early assessment need to be considered to prevent inappropriate gender assignment.
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http://dx.doi.org/10.1186/s13256-021-02914-2 | DOI Listing |
J Res Adolesc
March 2025
Behavioural Science Institute, Radboud University, Nijmegen, The Netherlands.
Friends' influence may importantly contribute to the development of adolescent disordered eating behaviors. However, little is known about the influence of friends on loss of control eating. This study investigated whether friend-reported loss of control eating was associated with changes in adolescents' own loss of control eating 1 year later and tested whether adolescents with lower self-esteem, higher fear of negative evaluation, and higher body dissatisfaction were more susceptible to friends' influence.
View Article and Find Full Text PDFAndrology
January 2025
Division of Pediatric Endocrinology, All India Institute of Medical Sciences, New Delhi, India.
Background: 46, XY disorders of sex development (DSD) are a group of highly heterogeneous conditions in which the molecular etiology remains unknown in a significant proportion of patients, even with massive parallel sequencing. Clinically significant copy number variants (CNVs) are identified in 20-30% of cases, particularly among those with gonadal dysgenesis (GD) and no molecular diagnosis.
Methods: Fourteen patients with 46, XY DSD due to GD in whom no pathogenic/likely pathogenic variants were found on next-generation sequencing using a targeted panel of 155 genes were screened for clinically significant CNVs using Affymetrix Comparative Genomic Hybridization (CGH).
Int J Surg
January 2025
Li Ka Shing Faculty of Medicine, University of Hong Kong, Pokfulam, Hong Kong, SAR.
Background: Understanding based on up-to-date data on the burden of non-communicable diseases (NCDs) is limited, especially regarding how subtypes contribute to the overall NCD burden and the attributable risk factors across locations and subtypes. We aimed to report the global, regional, and national burden of NCDs, subtypes, and attributable risk factors in 2021, and trends from 1990 to 2021 by age, sex, and socio-demographic index (SDI).
Materials And Methods: We used data from the Global Burden of Disease Study 2021 to estimate the prevalence, deaths, and disability-adjusted life years (DALYs) for NCDs and subtypes, along with attributable risk factors.
Am J Med Genet A
January 2025
NHC Key Laboratory of Endocrinology (Peking Union Medical College Hospital), Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
46,XY differences/disorders of sex development (DSD) are genetically heterogeneous conditions characterized by atypical development of the reproductive system. MYRF, a gene encoding a transcription factor, has been identified as a potential causative gene for DSD and cardiac urogenital syndrome (CUGS). This study aims to delineate the clinical manifestations of patients with 46,XY DSD and MYRF mutations, encompassing both from our cohort and cases reported in the literature.
View Article and Find Full Text PDFBackground: Deficiency of 17β-hydroxysteroid dehydrogenase type 3 (HSD17B3) is a rare variant of 46,XY disorders of sex development (DSD).
Aim: To give clinical, hormonal and molecular genetic characteristics of cases of 46,XY DSD associated with variants in the HSD17B3 gene.
Materials And Methods: The study included 310 patients with 46,XY DSD for the period from 2015 to 2019.
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