Clinical characteristics of female patients diagnosed with congenital adrenal hyperplasia and plastic-esthetic related thoughts: a retrospective study

Neuro Endocrinol Lett. 2022 Dec 31;43(7-8):378-384.


Objectives: Congenital adrenal hyperplasia (CAH) is a rare disorder that can cause masculinization of the external genitalia in females, usually evident in neonates. To present a case series of female patients with CAH by summarizing their clinical features and outcomes.

Design: This retrospective study analyzed the clinical data of female patients with CAH admitted to the First Affiliated Hospital of Xiamen University from 1995 to 2019.

Materials and methods: Clinical characteristics, CAH subtype, treatments, and outcomes were summarized from the medical records and analyzed. Follow-up was conducted after drug therapy and surgical treatment and was censored in 2019.

Results: Twenty-one female patients were diagnosed with CAH: 21-hydroxylase deficiency (21-OHD) in 17 patients and 17α-hydroxylase deficiency (17α-OHD) in four patients. The clinical manifestations of 21-OHD were clitoral hypertrophy, pigmentation, male secondary sexual development, genital malformation, sexual precocity, nausea, and vomiting. The clinical manifestations of 17α-OHD were hypertension, feminization, sexual infantilism, and pigmentation. The patients received hormone replacement therapy. When necessary, some patients underwent external genital organ orthomorphia or artificial periodic therapy. Twelve patients were followed up; their sexual development was improved, but seven patients had poor breast development due to late diagnosis and/or poor hormone treatment adherence.

Conclusion: Female CAH patients are subject to genital deformities, virilizing signs, breast dysplasia, and other appearance defects. The purpose of this report is to improve plastic and esthetic surgeons' understanding of CAH.

MeSH terms

  • Adrenal Hyperplasia, Congenital* / diagnosis
  • Delayed Diagnosis
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Retrospective Studies