ESPE Yearbook of Paediatric Endocrinology

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.</...

Cochrane Database Syst Rev. 2022 Mar 18;3(3):CD011027. doi: 10.1002/14651858.CD011027.pub3. PMID: 35302645.Brief Summary: This systematic review assessed the evidence for oral dextrose gel to treat hypoglycemia in newborns. Oral dextrose gel compared with placebo gel probably improved the correction of hypoglycaemic events and may result in a slight reduction in the risk of ma...

Clinical Endocrinology. 2022; 96:220–226. PMID: 34596269Brief Summary: This randomized controlled trial evaluated the effects of testosterone and aromatase inhibitor treatment on anthropometric measures, and their correlation with estradiol and testosterone serum levels in boys with constitutional delay of growth and puberty (CDGP), to elucidate the respective roles of the two sex steroid hormones on growth during puberty. The results sugge...

J Clin Endocrinol Metab, 2022. 107(5): p. 1357-1367. PMID: 34964458Brief Summary: This multicenter, randomized, controlled, phase 2 study compared the effects of once-weekly long-acting growth hormone (GH) somapacitan versus daily GH administered to GH-deficient (GHD) children over a period of 156 weeks. Efficacy estimates were height velocity (HV; cm/y) at year 3 and changes from baseline to end for height SDS, HV SDS, IGF-I SDS, and insulin-li...

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), <...

J Clin Endocrinol Metab. 2022 Jun 6:dgac349. PMID: 35666195, doi: 10.1210/clinem/dgac349. Brief Summary: This paper reports the adult height of 161 transgender girls (registered male at birth) from the Amsterdam Cohort of Gender Dysphoria. It finds no difference in adult height between use of standard and high estrogen doses. There is currently very little information on...

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 ...

J Clin Endocrinol Metab. 2022; 107(2): e487-e499. PMID: 34599587https://pubmed.ncbi.nlm.nih.gov/34599587/Brief Summary: This study describes the growth of adequately treated children with classical Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency during adrenarche and beyond. Patients with and without significant bone age advancement, and thus differing height prediction...

christine.martinez-vinson@aphp.fr J Pediatr Gastroenterol Nutr. 2021; 73: 231-235. PMID: 33908740.Brief Summary: This retrospective study evaluated longitudinal changes in bone mineral density (BMD) in children and adolescents with Crohn disease (CD), and the risk factors for low BMD. Low BMD (defined as BMD Z score ≤ -2.0) was present in 18.7% of patients at diagnosis and in 16% at ...

robertkj@uwm.edu International Journal of Obesity 2022 May 13:1–9. doi: 10.1038/s41366-022-01139-7. https://pubmed.ncbi.nlm.nih.gov/35562395/Brief Summary: This exploratory study presents the findings and experiences from n=117 children with obesity (BMI &gE;97th percentile for age...