Female pseudohermaphroditism: Congenital adrenal hyperplasia presenting with diffuse hyperpigmentation
DOI:
https://doi.org/10.66344/jpad.v28i2.1171Keywords:
Pseudohermaphroditism, congenital adrenal hyperplasia, androgensAbstract
The term congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive disorders, each of which involves a deficiency of an enzyme involved in the synthesis of cortisol, aldosterone, or both. The clinical presentation varies according to chromosomal sex. The sex of neonate with CAH is often initially unclear because of genital ambiguity. We report a case of 25-year-old phenotypically male, presenting with generalized hyperpigmentation for 5 years and occasional syncope for 1 year. On examination there were sparse axillary and pubic hair with ambiguous genitalia. 46XX karyotype, hypoplastic uterus on CT scan and elevated ACTH and 17-hydroxyprogesterone levels lead to the diagnosis of female pseudohermaphroditism due to congenital adrenal hyperplasia and patient was started on glucocorticoids and fludrocortisone by endocrinologist and was also referred to plastic surgeon.
References
1. Meske DP, Bornstein SR, Avila NA, Chrousos GP. Future directions in the study and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Ann Intern Med. 2002;136:320-34.
2. Kim CJ, Lin L, Huang N, Quigley CA, AvRuskin TW, Achermann JC et al. Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc. J Clin Endocrinol Metab. 2008;93:696-702.
3. Aubrey M, Jeff M. Genetic disorders and the fetus: Diagnosis, prevention and treatment. Eur J Endocrinol. 2010;167:103-10.
4. Swaminathan D. Adrenogenital syndrome. Indian Pediatrics. 2005;42:73-4.
5. Richard D, McAnulty M, Michele B, editors. Sex and Sexuality, Vol 1.Philadelphia: Greenwood Publishing Group; 2006.
6. Wilkins L. Abnormal sex differentiation: Hermaphroditism and gonadal dysgenesis. Engl J Med. 1996;74:297-308.
7. Kivi R. Congenital adrenal hyperplasia [Internet]. Healthline. 2016 (cited 26 April 2016). Available from: http://www.healthline.com/health/congenital-adrenal-hyperplasia.
8. Cabrera M, Vogiatzi M, New M. Long-term outcome in adult males with classic congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2001;86:304-56.
9. Loche S, New M. Congenital adrenal hyperplasia: female pseudohermaphroditism and virilization. Glob Libr Women’s Med. (ISSN: 1756-2228); 2008; DOI 10.3843/GLOWM.10348.
10. Dreger V, Alice, Ellen K, Feder AT. Prenatal dexamethasone for congenital adrenal hyperplasia. J Bioethical Inquiry. 2012;9:277-94.
Downloads
Published
Issue
Section
License
Copyright (c) 2018 Wajieha Saeed, Ghazala Butt, Khawar Khurshid
This work is licensed under a Creative Commons Attribution 4.0 International License.
Submission declaration
Authors retain the copyright to their work and grant the 'Journal of Pakistan Association of Dermatologists (JPAD)' the right of first publication under a Creative Commons Attribution 4.0 International (CC BY 4.0) license. This license allows others to share, adapt, and reuse the work for any purpose, including commercial use, as long as appropriate credit is given to the original authors and the journal.
By submitting a manuscript, authors confirm that the work has not been published previously (except as an abstract, lecture, or academic thesis), is not under review elsewhere, and has been approved by all authors and relevant authorities. Once accepted, the article will be openly accessible under the CC BY 4.0 license, ensuring wide dissemination and reuse with proper attribution.
