ESPE Yearbook of Paediatric Endocrinology

Pediatr Blood Cancer. 2021; 68: e28894. https://pubmed.ncbi.nlm.nih.gov/33459500/This cross-sectional observational study examined reproductive function in a nationwide cohort of female childhood acute lymphoblastic leukemia (ALL) survivors.Self-reported reproductive characteristics (age at menarche, virginity status, desire for children, pregnancy rates, and adverse ...

LGBT Health. 2022 May-Jun;9(4):238-246. PMID:35475663, doi: 10.1089/lgbt.2020.0494. Brief Summary: This study reports changes in wellbeing and quality of life in 70 adolescents (49 transgender men and 21 transgender women) from the Amsterdam Center for Expertise on Gender Dysphoria. It finds evidence of improvements in functioning on GAH. The purpose of gender-affirming ...

To read the full abstract: Lancet Child Adolesc Health. 2019 Feb;3(2):109–120This randomised, controlled, open-label trial at four paediatric centres in Finland evaluates aromatase inhibition with letrozole to induce puberty in boys with constitutional delay of growth and puberty.Treatment of delayed puberty aims to promote pubertal development ...

Brief summary: American Thyroid Association Guidelines for management of children with thyroid nodules and differentiated thyroid cancer were published in 2015 (1). Now Lebbink et al. published management guidelines from the European Thyroid Association.Pediatric differentiated thyroid carcinoma is rare. For many aspects of the disease (diagnosis, treatment, follow-up) clear evidence from randomized controlled trials are therefore missing. The p...

J Cell Rep. 2021 Mar 23;34(12):108862. 10.1016/j.celrep.2021.108862. https://pubmed.ncbi.nlm.nih.gov/33761344/This study demonstrates that MC4R variants found in humans affect receptor endocytosis, trafficking and dimerization and thus reveal multiple cellular mechanisms involved in weight regulation. The findings contributes to our und...

J Clin Endocrinol Metab. 2020 Oct 1;105(10):e3660–71. 10.1210/clinem/dgaa479. https://academic.oup.com/jcem/article/105/10/e3660/5879679In brief: This phase 3 multi-centre, open-label, single-arm study explores the efficacy, pharmacokinetics and safety of 6-monthly 45-mg subcutaneous leuprolide acetate in 59 pati...

Abstract: Lancet Diabetes Endocrinol. 2019 Feb;7(2):93–105.In brief: The study reports outcomes of a single-arm 7-year phase 2 extension trial of Asfotase alfa for infants and children with life-threatening hypophosphatasia who received a median of 6·6 years of therapy. The early improvements previously reported were sustained for up to 7 years of treatment.<p class...

To read the full abstract: J Clin Endocrinol Metab. 2019;104:3287-3295.The current definition of idiopathic short stature (ISS) refers to a heterogeneous group of short children, in the absence of any underlying detectable cause, including both normal variants of growth and pathological conditions. ISS subjects have been reported to reach an average final height of −1.5 SDS in boys...

Hum Genet. 2021 Nov;140(11):1553-1562. doi: 10.1007/s00439-021-02259-2.Brief Summary: This paper describes 5 related Karelian Bear Dogs (KBDs) with a canine hypopituitarism phenotype. Genome-wide association analysis (GWAS) and next-generation sequencing revealed a homozygous candidate gene defect in POU1F1. The study thus presents a novel animal model for human hypopituitarism.</...

Sex Dev. 2021;15(4):244-252. PMID: 34293745, doi: 10.1159/000515924.Brief Summary: This genetic study provides data of a large cohort of 140 patients with DSD who were screened for DHX37 variants.DHX37 emerges as a frequent cause of nonsyndromic 46,XY gonadal dysgenesis, and 46,XY testicular regression syndrome. Since the first description of the gene (1), <...