ReviewIndian journal of pediatrics2014
Congenital adrenal hyperplasia: issues in diagnosis and treatment in children.
Review in Indian journal of pediatrics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- An urgent need for early diagnosis and universal health care: insights from a series of interviews with parents of children living with congenital adrenal hyperplasia in Indonesia.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2025Article
- Development of a Hydrocortisone Orodispersible Thin Film Containing Its Succinate Prodrug.Pharmaceuticals (Basel, Switzerland) · 2025Article
- Long-read sequencing transforms the diagnosis of congenital adrenal hyperplasia: resolving pseudogene interference and structural variations.Frontiers in pediatrics · 2025Article
- Clinical Presentation and Genetic Analysis of Neonatal 11β-Hydroxylase Deficiency Induced by a ChimericJournal of clinical research in pediatric endocrinology · 2024Article
- Rare nonclassic type of Congenital adrenal hyperplasia due to 21-hydroxylase deficiency and genotype-phenotypic correlation.Heliyon · 2024Article
- Delayed diagnosis of complex glycerol kinase deficiency in a Chinese male infant: a case report.BMC pediatrics · 2022Article
- A Case of Salt-Wasting 21-Hydroxylase Deficiency With Resistance to Aldosterone due to Urinary Tract Infection.Cureus · 2020Article
- Congenital Adrenal Hyperplasia and Growth Outcomes.Indian journal of pediatrics · 2019Article
- Assisted Reproduction in Congenital Adrenal Hyperplasia.Frontiers in endocrinology · 2019Review
- Non-Classical Congenital Adrenal Hyperplasia in Childhood.Journal of clinical research in pediatric endocrinology · 2017Review
- New paradigms in the diagnosis and management of pediatric endocrine disorders.Indian journal of pediatrics · 2014Article
- Central Precocious Puberty Complicating Congenital Adrenal Hyperplasia: North Indian Experience.Indian journal of endocrinology and metabolismArticle
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital adrenal hyperplasia (CAH) is a common disorder of impaired adrenal cortisol biosynthesis with associated androgen excess. The clinical presentation of 21-hydroxylase deficiency, the commonest cause of CAH, forms a spectrum and can be divided into classic and non-classic types. The former consists of life threatening salt wasting and non-life threatening simple virilizing phenotypes. Patients with the non-classic form are asymptomatic or have mild features of androgen excess. Most developed countries have newborn screening facilities for CAH. In the absence of newborn screening, the diagnosis of CAH may be missed or delayed. This can result in neonatal mortality in salt wasting forms and incorrect sex of rearing in females with simple virilizing form. The diagnosis is reached by demonstrating high serum 17-hydroxyprogesterone (17OHP) levels. Preterm birth and neonatal illness can cause physiological elevation of 17OHP, thus complicating the diagnosis of CAH in the newborn period. Prenatal diagnosis and treatment with dexamethasone to prevent virilization of affected female fetuses is another area of controversy. The management of CAH is complicated by the need to use supraphysiologic doses of glucocorticoids to suppress adrenal androgen synthesis. In this review, the authors address pertinent issues related to the diagnosis and management of CAH in children.
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