Adult Women with Congenital Adrenal Hyperplasia (CAH)

Ichsan Arif(1*), Bobby Indra Utama(2)

(1) Prodi Program Pendidikan Dokter Spesialis Obstetri dan Ginekologi Fakultas Kedokteran Universitas Andalas RSUP Dr. M. Djamil Padang
(2) Sub Division of Urogynecology, Obstetrics and Gynecology Department, Faculty of Medicine, Andalas University, Dr. M. Djamil Central General Hospital Padang, West Sumatera, Indonesia
(*) Corresponding Author



Introduction : Congenital Adrenal Hyperplasia (CAH) is the most common cause of ambiguous genitalia. It is a genetic disorder that occurs due to failure or disruption of the formation of enzymes which play a role in the production of cortisol and aldosterone and can cause fusion of the labia, clitoromegaly, and a fusion of the vagina and distal urethra.

Case Reports:A 32-year-old patient, unmarried, came to the urogynecology department complaining of thickening of the upper genitalia that resembles male genitalia. This problem has been known to the patient since she was 16 years old and was brought to the doctor at the age of 21 and diagnosed with congenital adrenal hyperplasia. The patient has had menstruation since she was 14 years old, but it is irregular. Since 8 years ago, the patient has been regularly taking hydrocortisone from an internal medicine specialist but has never been to the obstetrics and gynecology department for 8 years, now the patient comes to the urogynecology department because she wants to get married. When the patient was in school, she grew up like a normal woman and have good academic abilities. In the family history, there was no family history of congenital abnormalities. From physical examination, her height is 150 cm. She shows the habitus of external body like a woman. On genital examination found no formation of labia, clitoromegaly. Karyotype 46, XX. Ultrasonography found uterus and ovaries within normal limits.

Conclusion:Counseling, both surgical and non-surgical treatment with a multidisciplinary approach, will give good results in patients with CAH. Rapid diagnosis and treatment will provide good management for patients with CAH. Surgery in the form of reducing the size of the clitoris (while maintaining the function of sensation), as well as expanding the vaginal opening can help in these patients to improve the patient's quality of life.

Keywords: Congenital Adrenal Hyperplasia; clitoromegaly; unmarried

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Davies MC, Creighton SM. Gynecological Developmental Abnormalities. In: Cardozo L, editor. Textbook of Female Urology and Urogynecology. 1. 4th ed. Boca Raton: CRC Press; 2017. p. 1684-5.

Heland S, Hewitt JK, McGillivray G, Walker SP. Preventing female virilization in congenital adrenal hyperplasia: The controversial role of antenatal dexamethasone. Aust NZJ Obstet Gynaecol. 2016;56(3):225-32.

Shenoy S, Gopishyam M. Successful Treatment Outcome in a Woman with Congenital Adrenal Hyperplasia. J Obstet Gynaecol India. 2019;69(2):188-91.

Akhtar N, Hayat Z, Bari A. Female Pseudo Hermaphroditism: Late Onset Congenital Adrenal Hyperplasia. J Ayub Med Coll Abbottabad. 2018;30(3):458-62.

Gondim R, Teles F, Barroso U, Jr. Sexual orientation of 46, XX patients with congenital adrenal hyperplasia: a descriptive review. J Pediatr Urol. 2018;14(6):486-93.

Almasri J, Zaiem F, Rodriguez-Gutierrez R, Tamhane SU, Iqbal AM, Prokop LJ, et al. Genital Reconstructive Surgery in Females With Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis. J Clin Endocrinol Metab. 2018;103(11):4089-96.

Jayakrishnan R, Lao Q, Adams SD, Ward WW, Merke DP. Revisiting the association of HLA alleles and haplotypes with CYP21A2 mutations in a large cohort of patients with congenital adrenal hyperplasia. Gene. 2019 Mar 01;687:30-34.

Gondim R, Teles F, Barroso U. Sexual orientation of 46, XX patients with congenital adrenal hyperplasia: a descriptive review. J Pediatr Urol. 2018 Dec;14(6):486-493.

Al-Mendalawi MD. Comment on: Growth characteristics in children with congenital adrenal hyperplasia. Saudi Med J. 2018 Nov;39(11):1164.

Barbaro M, Soardi FC, Ostberg LJ, et al. In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia. Clin Endocrinol (Oxf) 2015;82:37.

Speiser PW, Arlt W, Auchus RJ, Baskin LS, Conway GS, Merke DP, Meyer-Bahlburg HFL, Miller WL, Murad MH, Oberfield SE, White PC. Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2018 Nov 01;103(11):4043-4088.

Bruque CD, Delea M, Fernandez CS, et al. Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations. Sci Rep. 2016 Dec 14;6:39082.

Rushworth RL, Torpy DJ, Stratakis CA, Falhammar H. Adrenal Crises in Children: Perspectives and Research Directions. Horm Res Paediatr. 2018;89(5):341-351.

El-Maouche D, Hargreaves CJ, Sinaii N, Mallappa A, Veeraraghavan P, Merke DP. Longitudinal Assessment of Illnesses, Stress Dosing, and Illness Sequelae in Patients With Congenital Adrenal Hyperplasia. J Clin Endocrinol Metab. 2018 Jun 01;103(6):2336-2345.

Witchel, Selma Feldman. Congenital Adrenal Hyperplasia. Journal of pediatric and adolescent gynecology vol. 30,5 (2017): 520-534.

Mallappa A, Nella AA, Sinaii N, Rao H, Gounden V, Perritt AF, Kumar P, Ling A, Liu CY, Soldin SJ, Merke DP. Long-term use of continuous subcutaneous hydrocortisone infusion therapy in patients with congenital adrenal hyperplasia. Clin Endocrinol (Oxf). 2018 Oct;89(4):399-407.

Tamhane S, Rodriguez-Gutierrez R, Iqbal AM, Prokop LJ, Bancos I, Speiser PW, Murad MH. Cardiovascular and Metabolic Outcomes in Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis. J Clin Endocrinol Metab. 2018 Nov 01;103(11):4097-4103

Herbison AE. Control of puberty onset and fertility by gonadotropin-releasing hormone neurons. Nat Rev Endocrinol. 2016;12:452.

Walia R, Singla M, Vaiphei K, Kumar S, Bhansali A. Disorders of sex development: a study of 194 cases. Endocr Connect. 2018 Feb;7(2):364-371.

Milyani AA, Al-Agha AE, Al-Zanbagi M. Initial presentations and associated clinical findings in patients with classical congenital adrenal hyperplasia. J Pediatr Endocrinol Metab. 2018 Jun 27;31(6):671-673.


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