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Transgender health
Dec, 2024;9 (6): 544-552.

Prevalence of Intersex/Differences in Sex Development and Primary Gonadal Insufficiency in a Pediatric Transgender Population.

Hari Randhawa, Michelle M Knoll, Michael McPhaul, Kavitha Dileepan, Ryan McDonough, Angela Turpin, Jill D Jacobson
Author Information
  1. Hari Randhawa: University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA.
  2. Michelle M Knoll: University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA. ORCID
  3. Michael McPhaul: Quest Diagnostics' Nichols Institute, San Juan Capistrano, California, USA.
  4. Kavitha Dileepan: University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA.
  5. Ryan McDonough: University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA.
  6. Angela Turpin: University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA.
  7. Jill D Jacobson: University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA.
PMID: 39735381 DOI: 10.1089/trgh.2023.0033

Abstract

Purpose: This study aims to assess the prevalence of intersex variations/differences in sex development (I/DSDs), associated adrenal conditions, and primary gonadal insufficiency in children with gender dysphoria.
Methods: We performed a comprehensive review of the medical records for individuals who carried the diagnostic codes for gender dysphoria in addition to intersex and/or other conditions associated with sex steroid variations among patients evaluated by pediatric endocrinologists from 2013 to 2022.
Results: We found that 9 of 612 (1.5%) transmasculine (TM) and 4 of 215 (1.9%) transfeminine patients had detectable I/DSDs. Although most patients were diagnosed with I/DSDs before evaluation of gender dysphoria, 4 of 13 (30.7%) were diagnosed with I/DSDs after being referred to endocrinology for gender dysphoria. In all cases, diagnoses were made by the endocrinologists evaluating for gender dysphoria. An additional 0.7% of TM patients were diagnosed with distinct hyperandrogenic adrenal conditions, and 1% of TM patients were diagnosed with primary ovarian insufficiency.
Conclusion: The low, but clinically relevant, prevalence of I/DSDs, distinct adrenal conditions, and primary gonadal insufficiency in this transgender population supports the need for access to individualized expert medical care. Specifically, multidisciplinary clinics with experience in endocrinology may provide specialized support for the transgender community.

Keywords

congenital adrenal hyperplasia differences in sex development primary ovarian insufficiency transgender females transgender males

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