ESPE Yearbook of Paediatric Endocrinology

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...

J Pediatr Adolesc Gynecol. 2021 Apr;34(2):168–175. doi:10.1016/j.jpag.2020.11.012. PMID: 33248216The authors report the long-term outcomes of 71 patients with Complete Androgen Insensitivity Syndrome (CAIS) in the multicentre cross-sectional dsd-LIFE study. Patients were included at 14 different sites in 6 countries in Europe. This is one of the largest long-term studies on CAIS and is of interest to clinicians who manage girls and women wi...

Orphanet J Rare Dis. 2020 Aug 20;15(1):214. doi: 10.1186/s13023-020-01491-9. https://www.ncbi.nlm.nih.gov/pubmed/32819397This is an excellent and detailed systematic review on all relevant aspects of the MRKH syndrome. This review is also very timely, due to the many recent genetic and therapeutic advancements and the last in-de...

Eur J Endocrinol. 2020 Jun;182(6):P1–P15. doi: 10.1530/EJE-19-0831. PMID: 32268295.This paper describes the concerted efforts of the EU COST Action DSDNet and the European network for rare endocrine diseases Endo-ERN. A total of 33 laboratories were involved and they describe state of the art assessments of the peptide hormones: follicle-stimulating hormone (FSH), luteinizing hormone (LH)...

Neuropsychopharmacology. 2021 Apr;46(5):882–890.doi: 10.1038/s41386-020-00826-1. PMID: 32919399.This mouse study addresses the question of the psychological effects of treatment with the GnRH analogue (GnRHa) leuprolide. Six-week-old, i.e. early-pubertal, male and female mice were injected daily with leuprolide (20 μg) or saline for 6 weeks. The mice were subjected to a number...

Pediatrics. 2021 Mar 22:e2020023549. doi: 10.1542/peds.2020-023549. PMID: 33753543.This retrospective, single center chart review study assessed the incidence of arterial or venous thrombosis during gender affirming hormone therapy (GAHT) in 611 transgender adolescents. The prevalence of thrombosis risk factors was also investigated. No increased risk of thrombosis was found over a short ...

J Bone Miner Res. 2021 May;36(5):931–941. doi: 10.1002/jbmr.4262. PMID: 33507568.This restrospective study of the Cohort of Gender Dysphoria investigated bone geometry parameters of 106 adolescent trans-women and 216 adolescent trans-men during early and late start of gonadotropin-releasing hormone agonist (GnRHa) and gender affirming hormone therapy (GAHT). Transgender youth who started tr...

BMJ. 2021 Feb 3;372:n37. doi: 10.1136/bmj.n37. PMID: 33536184This observational cohort study used data from the French administrative healthcare database during 2007–2015 to assess the risk of meningioma development related to treatment with cyproterone acetate. The cohort comprised 253,777 participants, of whom 54% had high exposure to cyproterone acetate, and 45% had low exposure.<p cla...

J Adolesc Health. 2020 Jun;66(6):658–665. doi: 10.1016/j.jadohealth.2020.01.007.https://www.ncbi.nlm.nih.gov/pubmed/32115323This systematic review is inspired by the large discordance between the high number of transgender individuals who express a desire for genetic parenthood compared to the very low number who ult...

PrefaceSome of this year’s studies help us further understand the role of MKRN3 in puberty and better define the phenotype associated with MKRN3 mutations. Large cohort studies bring more information regarding secular trends in central precocious puberty, premature thelarche and adrenarche, but also gynecomastia. This chapter also highlights new discoveries regarding the effect of prenatal stress on pubertal timing and the results of the first phase...