Management of congenital adrenal hyperplasia in childhood

Kim, Mimi; Ryabets-Lienhard, Anna; Geffner, Mitchell E.

doi:10.1097/med.0b013e32835a1a1b

Cited by 17 publications

(12 citation statements)

References 39 publications

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“…It was beyond the scope of our survey to look into the types of assays used. The use of salivary 17-OHP in comparison with serum levels has been reported to be more sensitive as it measures the bioactive free hormone and preferable as it is noninvasive and painless (11). In our survey, only one centre reported that they were in the process of setting up a service to do salivary 17-OHP for monitoring.…”

Section: Discussionmentioning

confidence: 66%

Congenital adrenal hyperplasia in children – a survey on the current practice in the UK

Niranjan

2015

Journal of Pediatric Endocrinology and Metabolism

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Section: Discussionmentioning

confidence: 66%

Congenital adrenal hyperplasia in children – a survey on the current practice in the UK

Niranjan

2015

Journal of Pediatric Endocrinology and Metabolism

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“…Since the core problem in classic CAH is cortisol shortage, the leading aim of therapy is its substitution as well as suppression of the hypothalamus (CRH) and pituitary gland (ACTH) with exogenous glucocorticoid in order to achieve inhibition of excess androgen production [7,8]. The first-choice drug is usually hydrocortisone, identical to natural cortisol, at a dose of 10-18 mg/m 2 of the body surface divided into three (four) doses per day [9,10]. However, in non-classic CAH forms, where levels of endogenous cortisol remain normal and values of other metabolites are only moderately elevated, the inclusion of suppressive treatment to bring the elevated CRH and ACTH levels down may generate adverse effects due to supra-physiological dosing of glucocorticoids.…”

Section: Congenital Adrenal Hyperplasia and Androgen Biosynthesismentioning

confidence: 99%

Non-Classic Disorder of Adrenal Steroidogenesis and Clinical Dilemmas in 21-Hydroxylase Deficiency Combined with Backdoor Androgen Pathway. Mini-Review and Case Report

Sumińska

Bogusz‐Górna

Wegner

et al. 2020

IJMS

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Congenital adrenal hyperplasia (CAH) is the most common cause of primary adrenal insufficiency in children and adolescents. It comprises several clinical entities associated with mutations in genes, encoding enzymes involved in cortisol biosynthesis. The mutations lead to considerable (non-classic form) to almost complete (classic form) inhibition of enzymatic activity, reflected by different phenotypes and relevant biochemical alterations. Up to 95% cases of CAH are due to mutations in CYP21A2 gene and subsequent 21α-hydroxylase deficiency, characterized by impaired cortisol synthesis and adrenal androgen excess. In the past two decades an alternative (“backdoor”) pathway of androgens’ synthesis in which 5α-androstanediol, a precursor of the 5α-dihydrotestosterone, is produced from 17α-hydroxyprogesterone, with intermediate products 3α,5α-17OHP and androsterone, in the sequence and with roundabout of testosterone as an intermediate, was reported in some studies. This pathway is not always considered in the clinical assessment of patients with hyperandrogenism. The article describes the case of a 17-year-old female patient with menstrual disorders and androgenization (persistent acne, advanced hirsutism). Her serum dehydroepiandrosterone sulfate and testosterone were only slightly elevated, along with particularly high values for 5α-dihydrotestosterone. In 24 h urine collection, an increased excretion of 16α-OHDHEA—a dehydroepiandrosterone metabolite—and pregnanetriolone—a 17α-hydroxyprogesterone metabolite—were observed. The investigations that we undertook provided evidence that the girl suffered from non-classic 21α-hydroxylase deficiency with consequent enhancement of the androgen “backdoor” pathway in adrenals, peripheral tissues or both, using adrenal origin precursors. The paper presents diagnostic dilemmas and strategies to differentiate between various reasons for female hyperandrogenism, especially in childhood and adolescence.

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“…The possibility of using saliva to monitor 24 h cortisol profiles has also being explored. Salivary cortisol can be collected in a painless way and offers a measure of bioactive free hormone [96]. Dried blood spots have also been assessed as a means of 24 h steroid profiling using liquid chromatography tandem mass spectrometry [97].…”

Section: Monitoring Of Treatmentmentioning

confidence: 99%

Current and novel approaches to children and young people with congenital adrenal hyperplasia and adrenal insufficiency

Webb

Krone

2015

Best Practice & Research Clinical Endocrinology & Metab

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Congenital adrenal hyperplasia (CAH) represents a group of autosomal recessive conditions leading to glucocorticoid deficiency. CAH is the most common cause of adrenal insufficiency (AI) in the paediatric population. The majority of the other forms of primary and secondary adrenal insufficiency are rare conditions. It is critical to establish the underlying aetiology of each specific condition as a wide range of additional health problems specific to the underlying disorder can be found. Following the introduction of life-saving glucocorticoid replacement sixty years ago, steroid hormone replacement regimes have been refined leading to significant reductions in glucocorticoid doses over the last two decades. These adjustments are made with the aim both of improving the current management of children and young persons and of reducing future health problems in adult life. However despite optimisation of existing glucocorticoid replacement regimens fail to mimic the physiologic circadian rhythm of glucocorticoid secretion, current efforts therefore focus on optimising replacement strategies. In addition, in recent years novel experimental therapies have been developed which target adrenal sex steroid synthesis in patients with CAH aiming to reduce co-morbidities associated with sex steroid excess. These developments will hopefully improve the health status and long-term outcomes in patients with congenital adrenal hyperplasia and adrenal insufficiency.

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Management of congenital adrenal hyperplasia in childhood

Cited by 17 publications

References 39 publications

Congenital adrenal hyperplasia in children – a survey on the current practice in the UK

Congenital adrenal hyperplasia in children – a survey on the current practice in the UK

Non-Classic Disorder of Adrenal Steroidogenesis and Clinical Dilemmas in 21-Hydroxylase Deficiency Combined with Backdoor Androgen Pathway. Mini-Review and Case Report

Current and novel approaches to children and young people with congenital adrenal hyperplasia and adrenal insufficiency

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