ISSN 1662-4009 (online)

ey0018.8-6 | Important for Clinical Practice | ESPEYB18

8.6. Reproductive and perinatal outcomes in women with congenital adrenal hyperplasia: A population-based cohort study

AL Hirschberg , S Gidlof , H Falhammar , L Frisen , C Almqvist , A Nordenskjold , A Nordenstrom

J Clin Endocrinol Metab. 2021; 106(2): e957–e965. authors investigated the reproductive and perinatal outcomes in women with congenital adrenal hyperplasia (CAH) compared with control women in the largest such population-based study to date. Women with CAH had lower birth rates, were more likely to develop gestational diabetes, and had other ...

ey0017.8-11 | New Hope | ESPEYB17

8.11. Carriers of a classic CYP21A2 mutation have reduced mortality: A population-based national cohort study

A Nordenstrom , J Svensson , S Lajic , L Frisen , A Nordenskjold , C Norrby , C Almqvist , H Falhammar

To read the full abstract: J Clin Endocrinol Metab. 2019; 104(12): 6148–6154. PMID: 31393570.Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency has an incidence of 1 in 10 000 to 20 000 in most populations. It is one of the most common monogenic autosomal recessive disorders (1). It has been suggested that the condition is common because it may confe...

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...

ey0017.8-21 | Reviews | ESPEYB17

8.21. P450 oxidoreductase deficiency: A systematic review and meta-analysis of genotypes, phenotypes, and their relationships

B Dean , GL Chrisp , M Quartararo , AM Maguire , S Hameed , BR King , CF Munns , DJ Torpy , H Falhammar , RL Rushworth

To read the full abstract: J Clin Endocrinol Metab. 2020; 105(3): dgz255. PMID: 31825489.P450 oxidoreductase deficiency (PORD) is a rare autosomal recessive variant of congenital adrenal hyperplasia (CAH) arising from homozygous or compound heterozygous mutations to the gene encoding the enzyme P450 oxidoreductase (POR ) (1). Patients with PORD have a range of skeletal malformation...