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Clinical Characteristics of 46,XX Males with Congenital Adrenal Hyperplasia

Şenay Savaş-Erdeve1, Zehra Aycan2, Semra Çetinkaya1

  • 1University of Health Sciences Turkey, Dr. Sami Ulus Obstetrics and Gynecology, Children’s Health and Disease Training and Research Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey

Journal of Clinical Research in Pediatric Endocrinology
|December 30, 2020
PubMed

Insights

Most 46,XX congenital adrenal hyperplasia (CAH) cases raised male are diagnosed late, often after age two. These patients undergo various surgeries, including hysterectomy and testicular prosthesis placement, over a broad age range.

Area of Science:

  • Endocrinology
  • Genetics
  • Pediatric Surgery

Background:

  • Congenital adrenal hyperplasia (CAH) is a group of genetic disorders affecting the adrenal glands.
  • 46,XX CAH, when raised male, presents unique diagnostic and management challenges.
  • Virilization in 46,XX CAH can lead to significant physical and psychosocial considerations.

Purpose of the Study:

  • To retrospectively evaluate follow-up data of individuals with 46,XX congenital adrenal hyperplasia (CAH) who were assigned male at birth.
  • To analyze diagnostic timing, surgical interventions, and developmental outcomes in this cohort.
  • To understand the long-term management and outcomes for 46,XX CAH patients raised male.

Main Methods:

  • Retrospective analysis of a national database.
  • Data collection on diagnosis age, surgical procedures, and final height.
  • Inclusion of patients with 46,XX CAH raised male.

Main Results:

  • The median age of diagnosis was 3 years, with 65.9% diagnosed after age two.
  • Most patients (95.4%) presented with significant virilization (Prader stage 4-5).
  • Surgical interventions like hysterectomy, bilateral salpingo-oophorectomy, and testicular prosthesis placement occurred over a wide age range.

Conclusions:

  • Late diagnosis is common in 46,XX CAH cases raised male.
  • Surgical management, including genital reconstructive procedures and prosthesis implantation, is performed across a wide age spectrum.
  • Further research is needed to optimize long-term care and outcomes for these individuals.
Abstract

Keywords:
46,XXcongenital adrenal hyperplasiafinal height

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