ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This retrospective chart review included 116 patients aged 0 to 17 y (M:F 94%:6%) with X-linked adrenoleukodystrophy (ALD) managed in one expert medical center from 2006 to 2022. It assessed the impact of newborn screening (which began in the U.S. in 2013 based on measurement of a lysophosphatidylcholine derivative of a very long chain fatty acid (VLCFA) C26:0-LPC, followed if abnormal by ABCD1 gene sequencing), on the age and presentation of adrenal in...

Brief Summary: This study assessed the effect of growth hormone (GH) on WIP1 (wild-type p53-inducible phosphatase 1), a key mediator of the DNA damage response (DDR). GH suppressed DDR by inducing WIP1, which dephosphorylates and inactivates ATM (ataxia-telangiectasia mutated) kinase and its downstream effectors (such as CHK2, p53 and H2AX), leading to the accumulation of unrepaired DNA, which can potentially contribute to tumorigenesis.This elegant stud...

Brief Summary: This longitudinal study explored the impact of metabolic surgery on the growth hormone (GH)/IGF-1 axis and its subsequent effects on adipose tissue function. The results suggest that bariatric surgery enhances GH-IGF-1 levels, which are linked to improved adipose tissue function and a reduction in inflammation markers.This study explored how metabolic surgery influences the GH system, and how these changes are related to improvements in ad...

In brief: This systematic review, conducted by an international group of experts, provides an overview of the phenotype of patients with hypophosphatasia and proposes updated diagnostic criteria for this disease in children and adults.Commentary: Hypophosphatasia (HPP) is a rare genetic disorder caused by loss-of-function mutations in the alkaline phosphatase (ALPL) gene, which encodes the tissue nonspecific alkaline phosphatase (TNSALP) enzyme. Low alka...

Brief Summary:This study using mice and human models, shows that human gut bacteria Gordonibacter pamelaeae and Eggerthella lenta convert biliary corticoids into progestins through 21-dehydroxylation. It thereby shows that a class of immuno- and metabo-regulatory steroids are transformed into a class of sex hormones and neurosteroids. It also illustrates that gut hydrogen gas production is essential and sufficient to support this metabolic pathway, which is m...

To read the full abstract: Cell Rep. 2020 Jan 7;30(1):18–24.e5. doi: 10.1016/j.celrep.2019.12.009. PMID: 31914385.The hypothalamic-pituitary axis influences many body organ systems and its dysfunction can be fatal. A proper in vitro model is important for understanding the disease mechanisms affecting pituitary function. Based on their previous anterior pituitary modelli...

To read the full abstract: Nat Commun. 2020;11:1343.Li et al. describe a new genetic mechanism causing Pendred syndrome and extend evidence for an oligogenic origin of congenital hypothyroidism (CH). Autosomal recessive mutations in Pendrin (PDS/SCL26A4 ) were described in 1997 to cause Pendred syndrome [1]. However, over the years patients with either only heterozygous or even no mutation in PDS/SLC26A4 have been diag...

To read the full abstract: Hum Mol Genet. 2019, Jul 15; 28: 2319–29. doi: https://academic.oup.com/hmg/article/28/14/2319/5424416This study provides evidence that MYRF is important in the development of coelomic endothelial derived cells, and early gonadal development in both males and females. It combines detailed phenotypic assessment of patients and whole geno...

Brief Summary: This study examined the incidence and risk factors for adrenal crisis (AC) in patients with pediatric-onset adrenal insufficiency (AI). AC occurs in a substantial number of children with AI, particularly in younger children due to their high number of infections.Comment: Adrenal crisis (AC) is a life-threatening complication in patients with adrenal insufficiency (AI) (1-4). The clinical features of AC are often nonspecific, and it may be ...

Short summary: This study examined ex vivo the function of the sperm-specific CatSper-channel in almost 2300 men undergoing investigation for infertility. In 9 infertile men with normal semen analysis but pathologic sperm motility, biallelic variants in genes forming the CatSper-channel were found, either in CATSPER2 or CATSPERE. These men and their partners failed to conceive naturally and medically assisted reproduction (MAR) was successful only via intracytoplasmic...