ESPE Yearbook of Paediatric Endocrinology

J Clin Endocrinol Metab. 2021; 106(2): e957–e965.https://pubmed.ncbi.nlm.nih.gov/33135723/The 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 ...

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...

Arch Sex Behav. 2021 Apr;50(3):913–923. doi: 10.1007/s10508-021-01953-6. PMID: 33712989This paper describes a patient cohort study of 459 individuals with various DSD diagnoses, as part of the dsd-LIFE study. Patients were included at 14 different sites in 6 European countries.Genital surgery has been increasingly questioned in the past decade. Both the timin...

Abstract: Nat Med. 2019 Apr;25(4):583–590. PMID: 30804514In brief: This study describes the first skeletal dysplasia caused by a mutation in a microRNA that is not simply inactivating, but modifies the repertoire of target genes.Comment: MicroRNAs (miRNAs) are small (20–24 nucleotides) noncoding RNA molecules that post-transcriptio...