ISSN 1662-4009 (online)

ey0018.8-16 | Reviews | ESPEYB18

8.16. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency

DP Merke , RJ Auchus

N Engl J Med. 2020; 383(13): 1248–1261. adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders. Patients with CAH have cortisol deficiency and in its most severe form, a potentially lethal aldosterone deficiency.In this review, the authors describe the c...

ey0019.8-16 | Reviews | ESPEYB19

8.16. Management challenges and therapeutic advances in congenital adrenal hyperplasia

A Mallappa , DP Merke

Nat Rev Endocrinol. 2022; 18(6): 337-352. PMID: 35411073 Summary: This review summarizes the current knowledge and understanding of the therapeutic challenges and the novel advances in the management of classical congenital adrenal hyperplasia (CAH).This review describes the present and novel therapeutic options for 21OHD C...

ey0016.8-7 | Important for Clinical Practice | ESPEYB16

8.7. Complement component 4 variations may influence psychopathology risk in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Q Lao , MD Jardin , R Jayakrishnan , M Ernst , DP Merke

To read the full abstract: Hum Genet. 2018; 137(11–12): 955–960.Patients with Congenital adrenal hyperplasia (CAH) suffer from multiple comorbidities, including mental illness. Studies that investigated the prevalence of psychiatric disorders in patients with CAH showed that any psychiatric diagnosis were more common in CAH subjects compared with population controls. In p...

ey0015.8-7 | Important for Clinical Practice | ESPEYB15

8.7 Longitudinal assessment of illnesses, stress dosing and illness sequelae in patients with congenital adrenal hyperplasia

D El-Maouche , CJ Hargreaves , N Sinaii , A Mallappa , P Veeraraghavan , DP Merke

To read the full abstract: J Clin Endocrinol Metab. 2018; 103(6):2336-2345Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol production in the adrenal cortex. Classic CAH represents the most common cause of primary adrenal insufficiency in childhood (10). Infant mortality in patients with CAH has decreased since the advent of...

ey0020.12-8 | Steroids | ESPEYB20

12.8. Interpretation of steroid biomarkers in 21-hydroxylase deficiency and their use in disease management

K Sarafoglou , DP Merke , N Reisch , H Claahsen-van der Grinten , H Falhammar , RJ Auchus

Brief summary: In this Minireview, one pediatric and one adult case with 21-hydroxylase deficiency (21OHD) are discussed with respect to different clinical questions and steroid biomarkers reflecting their diagnosis, treatment and disease control. Basics of the disease mechanisms with different aspects throughout life (childhood, adulthood, sex, fertility and pregnancy) are discussed to lay grounds for the interpretation and use of laboratory data, including the newer 11-oxyge...

ey0019.8-9 | Clinical Trials – New Treatments | ESPEYB19

8.9. Tildacerfont in adults with classic Congenital Adrenal Hyperplasia: Results from two phase 2 studies

K Sarafoglou , CN Barnes , M Huang , EA Imel , IJ Madu , DP Merke , D Moriarty , S Nakhle , RS Newfield , MG Vogiatzi , RJ Auchus

J Clin Endocrinol Metab. 2021; 106(11): e4666-e4679. PMID: 34146101 Summary: These clinical trials evaluated the safety and efficacy of tildacerfront, a CRF1R antagonist, in suppressing adrenal androgen secretion in adult patients with classical Congenital adrenal hyperplasia (CAH) during a treatment period of 12 weeks.<p class="abs...

ey0016.8-5 | Important for Clinical Practice | ESPEYB16

8.5. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an endocrine society clinical practice guideline

PW Speiser , W Arlt , RJ Auchus , LS Baskin , GS Conway , DP Merke , HFL Meyer-Bahlburg , WL Miller , MH Murad , SE Oberfield , PC White

To read the full abstract: J Clin Endocrinol Metab. 2018; 103(11): 4043–4088.Since the publication of the 2010 Endocrine Society clinical practice guideline for Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency, there have been several advances in the diagnosis and management of the condition. Neonatal diagnosis methods have been refined to use gestational age in...

ey0015.15-5 | New treatments | ESPEYB15

15.5 Modified-Release and Conventional Glucocorticoids and Diurnal Androgen Excretion in Congenital Adrenal Hyperplasia

CM Jones , A Mallappa , N Reisch , N Nikolaou , N Krone , BA Hughes , DM O'Neil , MJ Whitaker , JW Tomlinson , KH Storbeck , DP Merke , RJ Ross , W Arlt

To read the full abstract: J Clin Endocrinol Metab 2017;102:1797-1806We know that conventional glucocorticoid therapies fail to mimic the normal diurnal profile of cortisol secretion, which should show an early morning surge in circulating levels, followed by a gradual daytime reduction, and night-time suppression. The early morning surge in ACTH also drives adrenal androgen production, which is e...

ey0018.8-3 | Important for Clinical Practice | ESPEYB18

8.3. Modified-release hydrocortisone in congenital adrenal hyperplasia

DP Merke , A Mallappa , W Arlt , A Brac de la Perriere , A Linden Hirschberg , A Juul , J Newell-Price , CG Perry , A Prete , DA Rees , N Reisch , N Stikkelbroeck , P Touraine , K Maltby , FP Treasure , J Porter , RJ Ross

J Clin Endocrinol Metab 2021; 106(5): e2063–e2077. authors report the findings of a 6-month, randomized, phase 3 trial, with a single arm extension, to investigate the efficacy, safety and tolerability of modified release hydrocortisone (MC-HC) replacement therapy versus standard glucocorticoid replacement therapy in 122 adult patients with c...