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...

ey0017.8-20 | Reviews | ESPEYB17

8.20 11-Oxygenated androgens in health and disease

AF Turcu , J Rege , RJ Auchus , WE Rainey

To read the full abstract: Nat Rev Endocrinol. 2020; 16(5): 284–296. PMID: 32203405.The adrenal gland is the primary source of 11-oxygenated 19-carbon steroids, also termed 11-oxyandrogens, which have several roles in human physiology and disease. These include 11β-hydroxyandrostenedione (11OHA4), 11-Ketotestosterone, (downstream metabolite of 11OHA4, mostly produced in peripheral...

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...

ey0017.8-7 | Important for Clinical Practice | ESPEYB17

8.7. Alternative pathway androgen biosynthesis and human fetal female virilization

N Reisch , AE Taylor , EF Nogueira , DJ Asby , V Dhir , A Berry , N Krone , RJ Auchus , CHL Shackleton , NA Hanley , W Arlt

To read the full abstract: Proc Natl Acad Sci U S A. 2019; 116(44): 22294-22299. PMID: 31611378.Androgen biosynthesis in the human fetus proceeds through the adrenal sex steroid precursor dehydroepiandrosterone (DHEA), which is converted to testosterone in the gonads, followed by further activation to 5α-dihydrotestosterone (DHT) in genital skin, thereby facilitating male external genit...

ey0017.8-8 | Clinical Trials - New Treatments | ESPEYB17

8.8. Efficacy and safety of levoketoconazole in the treatment of endogenous Cushing’s syndrome (SONICS): A phase 3, multicentre, open-label, single-arm trial

M Fleseriu , R Pivonello , A Elenkova , R Salvatori , RJ Auchus , RA Feelders , EB Geer , Y Greenman , P Witek , F Cohen , BMK Biller

To read the full abstract: Lancet Diabetes Endocrinol. 2019; 7(11): 855-865. PMID: 31542384A.Endogenous Cushing’s syndrome is a rare, serious endocrine condition characterized by chronic overproduction of cortisol (1). It is most often caused by a pituitary adenoma (i.e. Cushing’s disease), while other causes include ectopic ACTH secretion or primary adrenal neopl...

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...