ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This prospective follow-up cohort study investigated bone mineral density in transgender individuals who had initiated GnRH analogue treatment before age 18 followed by sex hormone treatment for at least 9 years. At a median age 28.2 years, after using testosterone for a median 11.9 years (IQR 10.2-13.8), transmasculine individuals had mean z-scores close to 0 at the lumbar spine, total hip and femoral neck, similar to z-scores at the start of GnRH analogue trea...

Brief Summary: This retrospective study analyzed data from real-world users of the MiniMed™ 780G System. Hybrid closed-loop algorithms have proven to be successful in achieving glycemic goals in people with diabetes. This performance has been consistently observed in various age groups and geographic areas.After the introduction of the first commercial automated insulin systems in 2016, the number and variety of these devices expanded rapidly (1). T...

Brief Summary:This basic research study examined post-transcriptional regulation of the human androgen receptor (AR) using three different human cell lines. The authors studied the structure of two key AR isoforms, full length (AR-FL) and truncated (AR-V7), by computational and experimental analyses and revealed novel insights into the functionally relevant structures in the 5′ and 3′ UTRs of AR-FL for AR expression.The AR plays important rol...

In Brief: The authors tested the diagnostic ability of the Face2Gene app in 23 children with a clinical or genetically confirmed diagnosis of Silver-Russell syndrome (SRS) and 29 children with genetically confirmed Prader-Willi syndrome (PWS). When combined with careful routine clinical history and examination, the Face2Gene app can be a useful diagnostic tool.Among PWS patients, Face2Gene calculated the top 1, top 5, and top 10 sensitivities to be 76%, ...

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, ...