Hypokalaemic hypertension and 17-alpha-hydroxylase/17,20-lyase deficiency in a young girl: a case report

• Published in: Hong Kong medical journal = Xianggang yi xue za zhi 2024-06, Vol.30 (3), p.241
• Main Authors: Yau, H N, Lo, W C, Yuen, Y P, Leung, M T, Ng, K L
• Format: Article
• Language: English
• Subjects: Adolescent; Adrenal Hyperplasia, Congenital - complications; Adrenal Hyperplasia, Congenital - genetics; Blood pressure; Case reports; Congenital diseases; Electrolytes; Enzymes; Female; Females; Fertility; Gender; Hormones; Hospitals; Humans; Hyperplasia; Hypertension; Hypertension - etiology; Hypokalemia; Hypokalemia - etiology; Infertility; Medicine; Metabolites; Pathology; Pathophysiology; Patients; Pediatrics; Puberty; Reproductive technologies; Steroid 17-alpha-Hydroxylase - genetics; Steroids
• ISSN: 1024-2708; 2226-8707
• DOI: 10.12809/hkmj2210635

CC BY-NC-ND 4.0 CASE REPORT Hypokalaemic hypertension and 17-alpha-hydroxylase/17,20-lyase deficiency in a young girl: a case report HN Yau, FHKCPaed, FHKAM (Paediatrics)1; WC Lo, FHKCPaed, FHKAM (Paediatrics)2; YP Yuen, FHKAM (Pathology), FRCPA3; MT Leung, FHKCPath, FHKAM (Pathology)4; KL Ng, FHKAM (Paediatrics), FRCPCH2 1 Department of Paediatrics and Adolescent Medicine, Tuen Mun Hospital, Hong Kong SAR, China 2 Department of Paediatrics and Adolescent Medicine, United Christian Hospital, Hong Kong SAR, China 3 Department of Pathology, Hong Kong Children's Hospital, Hong Kong SAR, China 4 Department of Pathology, Queen Elizabeth Hospital, Hong Kong SAR, China Corresponding author: Plasma renin activity is an important investigation to differentiate the causes, and would be suppressed in 17OHD by the potent mineralocorticoid activity, and is high in renovascular disease.6 On the contrary, aldosterone level could be suppressed, normal or raised in 17OHD.2 4 5 Low aldosterone level arises as a result of a suppressed renin angiotensin system while high level might be related to more severe enzyme defects resulting in greater production of end product from aldosterone precursors.4 As 17OHD has a characteristic pattern of metabolite excretion and metabolite ratios on urine steroid profiling, this profiling is an important investigation when diagnosing the condition. To date, the Human Gene Mutation Database has reported [greater than]100 different types of mutations on the CYP17A1 gene.7Genetic analysis showed compound heterozygous pathogenic variants in the CYP17A1 gene (reference transcript: [...]17OHD should be considered in a young hypertensive individual with hypokalaemia.