ESPE Yearbook of Paediatric Endocrinology

Mol Genet Genomic Med. 2018 Sep;6(5):785–795.doi: 10.1002/mgg3.445. PubMed PMID: 29998616Chromobox protein homolog 2 (CBX2) has two isoforms, CBX2.1 and the shorter CBX2.2. CBX2.1 was previously shown to be essential for male gonadal development, when a mutation was identified in a girl with 46,XY DSD. CBX2.1 stimulates male-specific...

Brief summary: This cross-sectional single tertiary center study analyzed the aspects of sexual life and fertility desire among a large cohort of adults with 46,XY DSD in Brazil. The influence of critical variables such as external genital appearances, prenatal androgen exposure, and gender change in the sexuality of 46,XY DSD people were investigated.There is sparse literature on the sexual function of 46,XY DSD conditions due to their rarity and hetero...

Brief summary: This translational study showed an increased plasma expression of miR-210 in individuals with 46,XY DSD compared to the control population and also showed a positive association between the presence of atypical genitalia and plasma levels of miR-210 expression in individuals with 46,XY DSD. The findings of this study contribute to a novel perspective on the possible role of miRNAs in the development of the male external genitalia and in the development of phenot...

J Clin Endocrinol Metab. 2019 Apr 1;104(4):1160–1170.doi: 10.1210/jc.2018-01866. PubMed PMID: 30388241This retrospective single center study from Brazil assessed the possible effects of prenatal androgen exposure, degree of virilization of the external genitalia, sex of rearing and diagnosis of DSD on later psychosexual outcomes (including gender identity, gender ...

J Clin Endocrinol Metab. 2022 Apr 19;107(5):e1797-e1806. PMID: 35134971, doi: 10.1210/clinem/dgac064. Brief Summary: This retrospective clinical research reports the clinical/biochemical, radiological, and genetic findings of a large cohort of 209 non-syndromic 46,XY DSD patients from a single tertiary center collected over the last 25 years in Brazil. A molecular diagnosis was achieved in 59....