Initial presentations and associated clinical findings in patients with classical congenital adrenal hyperplasia-Reference-Cited by-同舟云学术

Initial presentations and associated clinical findings in patients with classical congenital adrenal hyperplasia

Published:2018-05-11 Issue:6 Volume:31 Page:671-673
ISSN:2191-0251
Container-title:Journal of Pediatric Endocrinology and Metabolism
language:en
Short-container-title:

Author:

Milyani Asmaa Adel¹^ORCID,Al-Agha Abdulmoein Eid²,Al-zanbagi Mashael¹

Affiliation:

1. King Abdulaziz University , Jeddah , Saudi Arabia

2. Professor of Paediatric Endocrinology, King Abdulaziz University Hospital , Paediatric Department, P.O. Box 80215 , Jeddah 21589 , Saudi Arabia , Fax: +966 2 640 3841, +966 2 6408353

Abstract

Abstract Background: The objective of this study was to investigate the initial presenting features of children with classical congenital adrenal hyperplasia (CAH). Methods: This is a descriptive retrospective study over a period of 5 years. Data analysis was performed using Statistical Package for Social Science. Results: Ambiguous genitalia (AG) was the commonest initial presentation marking 50.7% of the patients. On the other hand, 33.3% presented with a salt-losing crisis, 4.1% of whom presented with shock, while 14.5% had a combined presentation of both AG and a salt-losing crisis. Conclusions: CAH should be highly suspected in all females born with AG. Contrarily, affected male newborns more frequently present with a salt-losing crisis, and considering the recent institution of newborn screening in Saudi Arabia, earlier detection in these children is anticipated.

Publisher

Walter de Gruyter GmbH

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health

Link

https://www.degruyter.com/document/doi/10.1515/jpem-2018-0029/pdf

Reference18 articles.

1. Sahakitrungruang T. Clinical and molecular review of atypical congenital adrenal hyperplasia. Ann Pediatr Endocrinol Metab 2015;20:1–7.

2. Merke DP, Bornstein SR. Congenital adrenal hyperplasia. Lancet 2005;365:2125–36.

3. Speiser PW, White PC. Congenital adrenal hyperplasia. N Engl J Med 2003;349:776–88.

4. Khan AH, Aban M, Raza J, Ul Haq N, Jabbar A, et al. Ethnic disparity in 21-hydroxylase gene mutations identified in Pakistani congenital adrenal hyperplasia patients. BMC Endocr Disord 2011;11:5.

5. Valea A. Morbid child obesity with possible Rohhadnet-Rohhad syndrom. Case report. Acta Endocrinol 2014;10:501–10.

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Adrenal Hypoplasia Congenita Presenting as Adrenal Crisis, Unconjugated Hyperbilirubinemia, and Hyperpigmentation;Journal of Clinical Neonatology;2024-04

2. Neonatal Endocrine Diseases;Emergency Medicine Clinics of North America;2023-11

3. Approach to androgen excess in women: Clinical and biochemical insights;Clinical Endocrinology;2022-03-29

4. Presenting status of children with classical congenital adrenal hyperplasia over two decades (1999–2018) in the absence of newborn screening in Sri Lanka;Journal of Pediatric Endocrinology and Metabolism;2021-06-30

5. Congenital Adrenal Hyperplasia—When Clinical Symptoms Are Missing;Pediatric Emergency Care;2019-03-08