46 XX Congenital Adrenal Hyperplasia (CAH) after Clitoroplasty, Labioplasty, and Vaginoplasty


  • Rahmat Husein FKUB-RSSA
  • Besut Daryanto Department of Urology, Faculty of Medicine, Universitas Brawijaya – Saiful Anwar General Hospital https://orcid.org/0000-0002-0776-1633
  • Paksi Satyagraha Department of Urology, Faculty of Medicine, Universitas Brawijaya – Saiful Anwar General Hospital https://orcid.org/0000-0002-9174-2629
  • Pradana Nurhadi Department of Urology, Faculty of Medicine, Universitas Brawijaya – Saiful Anwar General Hospital




46 XX, conginetal adrenal hyperplasia, DSD


Congenital adrenal hyperplasia (CAH) is the most common cause (60%) of Disorder of Sex Development (DSD), which causes three problems: symptoms and conditions arising due to adrenal endocrine disorders, long-term treatment, and quality of life due to genital ambiguity. An 18-year-old female patient was diagnosed with simple virilizing CAH and had genital ambiguity from birth. The patient was raised as a male. Overall, the examination results indicated a female. Physical examination before surgery showed virilization, such as external genital pigmentation, precocious pubic hair, and bilateral impalpable testis. The karyotype genetic examination confirmed female: 46, XX. Eventually, the patient decided as a female and underwent surgical management consisting of clitoroplasty, labioplasty, and vaginoplasty, followed by long-term corticosteroid therapy. Observations were made for three years after surgery to see the progress of the patient's condition. After undergoing glucocorticoid therapy and surgery, the patient had not experienced menstruation. Her breasts did not enlarge, and mustache and beard were still growing on her face. The patient was concerned about her condition, especially about the risk of infertility and inappropriate physical changes. The management of virilization in CAH with genital ambiguity should be seen from psychological and surgical perspectives. Understanding the disease, the goals of surgery, long-term treatment, and social adaptation help improve quality of life and reduce negative stigma.


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Chatziaggelou A, Sakkas EG, Votino R, Papagianni M, and Mastorakos G. Assisted Reproduction in Congenital Adrenal Hyperplasia. Frontiers in Endocrinology. 2019; 10: 723(1-6).

Rapp M, Duranteau L, van de Grift TC, et al. Self- And Proxy-Reported Outcomes after Surgery in People with Disorders/Differences of Sex Development (DSD) in Europe (dsd-LIFE). Journal of Pediatric Urology. 2021; 17(3): 353-365.

Witchel SF. Congenital Adrenal Hyperplasia. Journal of Pediatric and Adolescent Gynecology. 2017; 30(5): 520-534.

Suharibawa IGLA and Daryanto B. A Case Report: 46, XX Congenital Adrenal Hyperplasia (CAH). The Pan African Medical Journal. 2018; 31(1): 9.

Anna N, Louise F, Henrik F, Helena F, Gundela H, Per OJ, Marja T, Kerstin H, and Agneta N. Sexual Function and Surgical Outcome in Women with Congenital Adrenal Hyperplasia Due to CYP21A2 Deficiency: Clinical Perspective and the Patients Perception. The Journal of Clinical Endocrinology & Metabolism. 2010; 95(8): 3633–3640.

Arlt W, Willis DS, Wild SH, et al. Health Status of Adults with Congenital Adrenal Hyperplasia: A Cohort Study of 203 Patients. The Journal of Clinical Endocrinology and Metabolism. 2010; 95(11): 5110-5121.

Speiser PW. Congenital Adrenal Hyperplasia. F1000Research. 2015; 4: 1-5.

Merke DP and Auchus RJ. Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency. New England Journal of Medicine. 2020; 383(13): 1248–1261.

Auchus RJ and Arlt W. Approach to the Patient: The Adult with Congenital Adrenal Hyperplasia. The Journal of Clinical Endocrinology and Metabolism. 2013; 98(7): 2645–2655.

Ventura A, Brunetti G, Colucci S, et al. Glucocorticoid-Induced Osteoporosis in Children with 21-Hydroxylase Deficiency. BioMed Research International. 2013; 2013: 1–8.

Crouch NS, Liao LM, Woodhouse CRJ, Conway GS, and Creighton SM. Sexual Function and Genital Sensitivity Following Feminizing Genitoplasty for Congenital Adrenal Hyperplasia. The Journal of Urology. 2008; 179(2), 634–638.

Wang LC and Poppas DP. Surgical Outcomes and Complications of Reconstructive Surgery in the Female Congenital Adrenal Hyperplasia Patient: What Every Endocrinologist Should Know. The Journal of Steroid Biochemistry and Molecular Biology. 2017; 165: 137–144.

Schoer MB, Nguyen PN, Merritt DF, Wesevich VG, and Hollander AS. The Role of Patient Advocacy and the Declining Rate of Clitoroplasty in 46 XX Patients with Congenital Adrenal Hyperplasia.

Clinical Pediatrics. 2018; 57(14): 1664-1671.

Meyer-Bahlburg HFL, Khuri J, Reyes-Portillo J, Ehrhardt AA, and New MI. Stigma Associated with Classical Congenital Adrenal Hyperplasia in Women's Sexual Lives. Archives of Sexual Behavior. 2018; 47(4); 943–951.

Engberg H, Butwicka A, Nordenström A, et al. Congenital Adrenal Hyperplasia and Risk for Psychiatric Disorders In Girls And Women Born Between 1915 And 2010: A Total Population Study. Psychoneuroendocrinology. 2015; 60: 195-205.

Daae E, Feragen KB, Nermoen I, and Falhammar H. Psychological Adjustment, Quality of Life, and Self-Perceptions of Reproductive Health in Males with Congenital Adrenal Hyperplasia: A Systematic Review. Endocrine. 2018; 62(1): 3–13.

Casteràs A, De Silva P, Rumsby G, and Conway GS. Reassessing Fecundity in Women with Classical Congenital Adrenal Hyperplasia (CAH): Normal Pregnancy Rate but Reduced Fertility Rate. Clinical Endocrinology. 2009; 70(6): 833-837.



2022-08-31 — Updated on 2022-11-09




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