The Department of Endocrinology, 
Clinical Features of Unrecognized Congenital Adrenal Hyperplasia Due to 17α-hydroxylase Deficiency Since Adolescence: A Case Report.
- Department of Endocrinology, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry, India.
- Department of Endocrinology, Diabetes and Metabolism, Christian Medical College, Ida Scudder Road, Vellore, Tamil Nadu, India.
- Department of Endocrinology, All India Institute of Medical Sciences, Kalyani, West Bengal, India.
Journal of the ASEAN Federation of Endocrine Societies Vol. 38 · Issue 2 · pp. 131-134
PMID 38045661 DOI 10.15605/jafes.038.02.08
Cite This Article
K G Rashmi, Lavanya Ravichandran, Ayan Roy, Dukhabandhu Naik, Sadishkumar Kamalanathan, Jayaprakash Sahoo, Aaron Chapla, Nihal Thomas. Clinical Features of Unrecognized Congenital Adrenal Hyperplasia Due to 17α-hydroxylase Deficiency Since Adolescence: A Case Report. Journal of the ASEAN Federation of Endocrine Societies. 2023;38(2):131-134. doi:10.15605/jafes.038.02.08
Abstract
The majority of patients with congenital adrenal hyperplasia (CAH) present with a deficiency of 21-hydroxylase or 11-beta-hydroxylase, which account for 90% and 7% of cases, respectively. However, CAH due to 17α-hydroxylase deficiency (17OHD) is an extremely rare form of CAH (
Keywords
- 17α-hydroxylase deficiency
- 46
- XY DSD
- congenital adrenal hyperplasia
- disorders of sexual development (DSD)
- hypertension
- rare cases
