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Congenital adrenal hyperplasia — Clinical Guidelines

Overview

Congenital adrenal hyperplasia (CAH) is a group of inherited autosomal recessive disorders characterized by defects in cortisol synthesis, leading to cortisol deficiency and excess androgen production. This results in a spectrum of clinical presentations including ambiguous genitalia, precocious puberty, and metabolic complications. 1 13

Diagnosis

Clinical Presentation: Ambiguous genitalia, salt-wasting crises, virilization, short stature, and metabolic abnormalities.

Biochemical Tests: Elevated 17-hydroxyprogesterone (17-OHP) levels, low cortisol, and ACTH stimulation test showing inadequate cortisol response.

Genetic Testing: Mutation analysis of CYP21A2 gene for 21-hydroxylase deficiency, other steroidogenic enzyme genes for rarer forms.

Imaging: Sonographic cerebriform pattern in neonates with ambiguous genitalia 41.

Management

Glucocorticoids: Hydrocortisone or modified-release formulations to replace cortisol and control androgen excess 1 8 13.

Mineralocorticoids: Fludrocortisone for patients with salt-wasting forms to manage electrolyte imbalances 1 13.

Aromatase Inhibitors: Considered in prepubertal treatment to reduce virilization 1.

Crinecerfont: Novel treatment targeting cortisol production in pediatric and adult patients with 21-hydroxylase deficiency 2 3.

Alternative Glucocorticoids: Corticosterone evaluated for improved therapeutic index compared to hydrocortisone 4.

Special Populations

Pediatrics: Focus on prepubertal treatment with antiandrogens and reduced hydrocortisone to optimize height outcomes 1.

Adults: Management includes transitioning from pediatric to adult care with continued glucocorticoid and mineralocorticoid replacement 13.

Pregnancy: Close monitoring of both mother and fetus due to potential metabolic and hormonal challenges 13.

Comorbidities: Attention to cardiovascular and metabolic risks, including obesity and hypertension, exacerbated by chronic glucocorticoid use 14.

Key Recommendations

Initiate Glucocorticoid Therapy Early: Use hydrocortisone or modified-release formulations to manage cortisol deficiency and androgen excess (Evidence: Strong 1 8 13).

Monitor and Adjust Therapy for Growth: Optimize treatment in children to improve final adult height, possibly incorporating reduced hydrocortisone doses and aromatase inhibitors 1.

Consider Novel Therapies: Evaluate crinecerfont for controlling androgen excess in both pediatric and adult patients with 21-hydroxylase deficiency (Evidence: Moderate 2 3).

Transition Care Plan: Ensure smooth transition from pediatric to adult care with comprehensive management of long-term complications (Evidence: Expert opinion 13).

Screen for Comorbidities: Regularly assess cardiovascular and metabolic health, particularly in adults, due to chronic glucocorticoid exposure (Evidence: Moderate 14).

References

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Steroidogenic acute regulatory protein (STAR) deficiency: Our experience and systematic review for phenotype-genotype correlation. Clinical endocrinology 2024. link 6 Ertorer ME, Anaforoglu I, Yilmaz N, Akkus G, Turgut S, Unluhizarci K et al.. Landscape of congenital adrenal hyperplasia cases in adult endocrinology clinics of Türkiye-a nation-wide multicentre study. Endocrine 2024. link 7 Miller WL, White PC. A Brief History of Congenital Adrenal Hyperplasia. Hormone research in paediatrics 2022. link 8 Merke DP, Mallappa A, Arlt W, Brac de la Perriere A, Lindén Hirschberg A, Juul A et al.. Modified-Release Hydrocortisone in Congenital Adrenal Hyperplasia. The Journal of clinical endocrinology and metabolism 2021. link 9 Prete A, Auchus RJ, Ross RJ. Clinical advances in the pharmacotherapy of congenital adrenal hyperplasia. European journal of endocrinology 2021. link 10 Wijaya M, Ma H, Zhang J, Du M, Li Y, Chen Q et al.. Aldosterone signaling defect in young infants: single-center report and review. BMC endocrine disorders 2021. link 11 Gao Y, Yu B, Mao J, Wang X, Nie M, Wu X. The prevalence of heterozygous CYP21A2 deficiency in patients with idiopathic acne, hirsutism, or both. Endocrine 2020. link 12 Zacharieva S, Robeva R, Andonova S, Vazharova R, Balabanski L, Atanasoska M et al.. Long-term follow-up of a female patient with non-classical 11β-hydroxylase deficiency and two novel mutations in CYP11B1. Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology 2019. link 13 Speiser PW, Arlt W, Auchus RJ, Baskin LS, Conway GS, Merke DP et al.. Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline. The Journal of clinical endocrinology and metabolism 2018. link 14 Tamhane S, Rodriguez-Gutierrez R, Iqbal AM, Prokop LJ, Bancos I, Speiser PW et al.. Cardiovascular and Metabolic Outcomes in Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis. The Journal of clinical endocrinology and metabolism 2018. link 15 Buitenwerf E, Links TP, Kema IP, Haadsma ML, Kerstens MN. Congenital adrenal hyperplasia as a cause of adrenal incidentaloma. The Netherlands journal of medicine 2017. link 16 Wang LC, Poppas DP. Surgical outcomes and complications of reconstructive surgery in the female congenital adrenal hyperplasia patient: What every endocrinologist should know. The Journal of steroid biochemistry and molecular biology 2017. link 17 McCann-Crosby B, Chen MJ, Lyons SK, Lin Y, Axelrad M, Dietrich JE et al.. Nonclassical congenital adrenal hyperplasia: targets of treatment and transition. Pediatric endocrinology reviews : PER 2014. link 18 Trakakis E, Papadavid E, Dalamaga M, Koumaki D, Stavrianeas N, Rigopoulos D et al.. Prevalence of non classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Greek women with acne: a hospital-based cross-sectional study. Journal of the European Academy of Dermatology and Venereology : JEADV 2013. link 19 Rastogi A, Walia R, Saikia UN, Bhansali A. Macroorchidism: consequence of untreated congenital adrenal hyperplasia. Indian pediatrics 2012. link 20 Witchel SF. Nonclassic congenital adrenal hyperplasia. Current opinion in endocrinology, diabetes, and obesity 2012. link 21 New MI. Ancient history of congenital adrenal hyperplasia. Endocrine development 2011. link 22 Riepe FG. Adrenal gland: Congenital adrenal hyperplasia: new treatment guidelines. Nature reviews. Endocrinology 2011. link 23 Caputo V, Fiorella S, Curiale S, Caputo A, Niceta M. Refractory acne and 21-hydroxylase deficiency in a selected group of female patients. Dermatology (Basel, Switzerland) 2010. link 24 Wilson JY, Moore MJ, Stegeman JJ. Catalytic and immunochemical detection of hepatic and extrahepatic microsomal cytochrome P450 1A1 (CYP1A1) in white-sided dolphin (Lagenorhynchus acutus). Aquatic toxicology (Amsterdam, Netherlands) 2010. link 25 Mustafa R, Hashmi HA, Ullah S. Congenital adrenal hyperplasia causing clitoromegaly. Journal of the College of Physicians and Surgeons--Pakistan : JCPSP 2008. link 26 Bozcaarmutlu A, Arinç E. Purification of CYP2B-like protein from feral leaping mullet (Liza saliens) liver microsomes and its biocatalytic, molecular, and immunological characterization. Journal of biochemical and molecular toxicology 2008. link 27 Krone N, Grischuk Y, Müller M, Volk RE, Grötzinger J, Holterhus PM et al.. Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene causing congenital adrenal hyperplasia resulting from 11-hydroxylase deficiency. 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Congenital adrenal hyperplasia