ESPE Yearbook of Paediatric Endocrinology

Brief summary: Concerns exist that transgender adolescents opting for gender affirming treatments may subsequently regret their decision. This large study from Amsterdam provides information that in early adulthood, 98% of their cohort continued to access these treatments.The Amsterdam Cohort of Gender Dysphoria is one of the largest ongoing studies on the long-term outcomes of gender affirming hormone treatments (GAH). The authors presented outcomes at ...

Brief summary: In this Minireview, one pediatric and one adult case with 21-hydroxylase deficiency (21OHD) are discussed with respect to different clinical questions and steroid biomarkers reflecting their diagnosis, treatment and disease control. Basics of the disease mechanisms with different aspects throughout life (childhood, adulthood, sex, fertility and pregnancy) are discussed to lay grounds for the interpretation and use of laboratory data, including the newer 11-oxyge...

Cell Metab. 2020; 31(4):710–725.e7. doi: 10.1016/j.cmet.2020.02.016. PMID: 32197072.In brief: High-sugar diets cause thirst, obesity and metabolic dysregulation, leading to insulin resistance, the MetS, T2DM and shortened lifespan. This study shows that high sugar diets induce dehydration in adult Drosophila. Water supplementation fully rescued the shortened lifespan, but ...

Diabetologia, 2021; 64, 375–384.https://link.springer.com/article/10.1007/s00125-020-05302-5#Abs1The authors measured plasma anti-Müllerian hormone (AMH) levels over 2x 5-year intervals in a prospective cohort study of 3293 healthy women aged 20–59 years at baseline. Lower baseline age-specific AMH levels were associated with a higher risk of Type 2 di...

Eur J Endocrinol. 2022 Apr 21;186(6):G9-G49. PMID: 35353710, doi: 10.1530/EJE-22-0073.Brief Summary: This Endo-European Reference Network guideline was endorsed by the European Society for Pediatric Endocrinology, the European Society for Endocrinology, and the European Academy of Andrology. It provides extensive data on the hormonal management in young individuals with hypogonadism or DSD in nee...

To read the full abstract: Clinical Endocrinology 2020;92:434–442.The authors developed and applied questionnaires to capture various aspects of health-related quality of life (HR-QoL) and psychosocial functioning in a large cohort of adult women with Turner syndrome (TS). Women with TS reported a lower HR-QoL, perceived more stress and experienced increased fatigue compared to the general population. They found a relationship between HR-Qo...

To read the full abstract: Thyroid. 2019;29:480–492.The thyroid axis is particularly responsive to critical illness. Adaptation processes of the thyroid axis to critical illness and prolonged fasting are well described as non-thyroidal illness syndrome. Non-thyroidal illness is mainly explained by two mechanisms: 1) peripheral inactivation of T4 to rT3 by decreased type-1 deiodinase...

To read the full abstract: J Med Genet. 2018;55:693–700.This genetic study identified, by whole exome sequencing, mutations in the insulin receptor substrate 4 gene (IRS4) in 5 families with isolated central congenital hypothyroidism. Thus, the authors add a fifth genetic cause of isolated congenital hypothyroidism to the previously known genes: TSHB, TRHR, IGSF1, ...

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 Clin Endocrinol Metab. 2021;106:e1231–e1239. doi: 10.1210/clinem/dgaa901.The results of this study are a robust argument to implement neonatal screening for central congenital hypothyroidism (CCH) worldwide. Only few countries, such as the Netherlands, screen for CCH. Neurodevelopmental outcome data are scarce for CCH compared to primary congenital hypothyroidism (PCH) not only becau...