Typical characteristics of children with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency: a single-centre experience and review of the literature.

Journal of Pediatric Endocrinology & Metabolism : JPEM
Thomas BreilMarkus Bettendorf

Abstract

Background 11β-hydroxylase deficiency (11βOHD) is a rare disease representing the second most common cause of congenital adrenal hyperplasia (CAH) (5-8%) with an incidence of about 1:100,000. In contrast to 21-hydroxylase deficiency (21OHD), 11βOHD is not included in neonatal screening programmes. The objective of this study was to demonstrate the typical features of male patients with 11βOHD. Methods Clinical, biochemical and radiological data of patients with 11βOHD were analysed in this retrospective single-centre analysis. Results Six male patients of four unrelated families with 11βOHD were identified (0.1-13.5 years of chronological age [CA] at diagnosis). The predominant symptoms were arterial hypertension, tall stature and precocious pseudopuberty. Bone ages (BAs) were remarkably advanced at diagnosis in four index patients (median difference BA-CA: 5.5 years, range 1.5-9.2 years). Homozygous mutations were identified in exon 7 (c.1179_1180dupGA [p.Asn394Argfs*37]) and exon 8 (c.1398+2T>C) of the CYP11B1 gene leading both to a complete loss of function. The latter mutation has not yet been described in databases. 11βOHD was identified by the measurement of 11-deoxycortisol in a newborn screening card of one patient retr...Continue Reading

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Citations

Sep 20, 2019·International Journal of Molecular Sciences·Federico BaronioAntonio Balsamo
Oct 28, 2019·Endocrinology and Metabolism Clinics of North America·Filippo Ceccato, Franco Mantero
Apr 9, 2021·The Journal of Clinical Endocrinology and Metabolism·Melek YildizTulay Guran
Aug 21, 2021·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Priyanka Khandelwal, Jaap Deinum

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