2022
DOI: 10.1038/s41574-022-00655-w
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Management challenges and therapeutic advances in congenital adrenal hyperplasia

Abstract: Treatment for congenital adrenal hyperplasia (CAH) was introduced in the 1950s following the discovery of the structure and function of adrenocortical hormones. Although major advances in molecular biology have delineated steroidogenic mechanisms and the genetics of CAH, management and treatment of this condition continue to present challenges. Management is complicated by a combination of comorbidities that arise from disease-related hormonal derangements and treatment-related adverse effects. The clinical ou… Show more

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Cited by 63 publications
(76 citation statements)
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“…Multiple alternative treatment approaches are being developed with the aim of tailoring therapy for improved long-term outcomes for patients with 21-OHD, including treatments designed to replace cortisol in a physiological manner and treatments with adjunct agents intended to control excess levels of androgen, which thereby enables reduction in glucocorticoid doses, e.g., modified-release hydrocortisone, continuous subcutaneous hydrocortisone infusion pump, 17-hydroxylase inhibitor, hypothalamic–pituitary–adrenal axis suppressors, and cell-based or gene-based therapies ( 33 ). These advances in treatment may shed more light on the significance and necessity of healthcare transition.…”
Section: Future Perspective Of Healthcare Transition In 21-hydroxylas...mentioning
confidence: 99%
“…Multiple alternative treatment approaches are being developed with the aim of tailoring therapy for improved long-term outcomes for patients with 21-OHD, including treatments designed to replace cortisol in a physiological manner and treatments with adjunct agents intended to control excess levels of androgen, which thereby enables reduction in glucocorticoid doses, e.g., modified-release hydrocortisone, continuous subcutaneous hydrocortisone infusion pump, 17-hydroxylase inhibitor, hypothalamic–pituitary–adrenal axis suppressors, and cell-based or gene-based therapies ( 33 ). These advances in treatment may shed more light on the significance and necessity of healthcare transition.…”
Section: Future Perspective Of Healthcare Transition In 21-hydroxylas...mentioning
confidence: 99%
“…Children with classic CAH who had predicted adult height two standard deviations below their MPH treated with GH alone or in combination with a GnRH analog achieved taller adult height compared with their predicted height at baseline (Mallappa & Merke 2022). Overall, there is limited evidence to support the benefits of GH therapy in adults, with or without a GnRH analog.…”
Section: Introductionmentioning
confidence: 98%
“…On the other hand, the NC (mild) form, with a prevalence between 1:1000-1:500 live births, is caused by CYP21A2 variants that retain 20-50% of enzyme activity. This form is often asymptomatic and the diagnosis is made during biochemical evaluations performed for hirsutism and menstrual irregularities (8,9).…”
Section: Introductionmentioning
confidence: 99%