ESPE Yearbook of Paediatric Endocrinology

Brief summary: In utero the embryo and the fetus are protected by different mechanisms from too high levels of maternal thyroid hormones after transplacental passage such as deiodination and sulfatation of T4 and T3 in the placenta as well as in the tissues of the unborn child (1,2). Maternal hyperthyroidism and its treatment with anti-thyroid drugs is associated with different congenital malformation. However, so far, it remains unclear, which malformations are linke...

Brief summary: This article shows that intra-cerebroventricular injections of a recombinant adeno-associated virus expressing MKRN3 resulted in delayed puberty in female mice.MKRN3 loss-of-function mutation is the most frequent cause of familial central precocious puberty (CPP) (1).These authors investigated the effect of MKRN3 overexpression on pubertal timing, by generating a mouse model of neonatal hypothalamic Mkrn3 ov...

Brief summary: This single-centre retrospective study evaluated cortisol responses during febrile episodes in children with cancer. Low cortisol responses were common and were unrelated to current steroid therapy.Random serum cortisol and ACTH were measured in 75 children and adolescents with cancer while admitted for fever during chemotherapy; 47/75 patients received glucocorticoids as part of their treatment (steroid group). A low cortisol response (LC...

Brief summary: In this meta-analysis, data of 2030 patients with idiopathic growth hormone deficiency (IGHD) extracted from 25 studies were reanalyzed for reversal of GHD on GH retesting. The reversibility of IGHD varied depending on GH retest cut-offs and testing time-point/age. Higher GH cut-offs and earlier testing resulted in lower GHD reversal rate, but even with a cut-off of 7.7–10 ng/mL the reversal rate was 55%, and retesting before final height revealed also a re...

N Engl J Med. 2022 May 19;386(20):1877–1888. doi: 10.1056/NEJMoa2109191.Brief summary: This prospective cohort study leveraged data from the International Childhood Cardiovascular Cohorts (i3C) Consortium, including 42 324 participants at baseline and followed-up over a mean of 35 years, in order to investigate associations between cardiovascular risk factors (CVRF, including body-mass ind...

To read the full abstract: J Clin Endocrinol Metab. 2020 Feb 15. pii: dgaa078. doi: 10.1210/clinem/dgaa078. PMID: 32060556.Just another gene implicated in hypopituitarism? Yes, but it is a newish cilopathy gene in the hedgehog pathway. Hedgehog family of polypeptides (Sonic (Shh), Indian (Ihh) and desert (Dhh) hedgehog) are signaling molecules that are needed for many cellular events and pl...

To read the full abstract: J Clin Endocrinol Metab. 2020 Jan 1;105(1):dgz034.Using different genetic approaches, the authors identified 5 novel pathogenic or likely pathogenic IGF2 gene variants in Japanese patients who underwent genetic testing for the variable associations of multiple congenital anomalies such as mental retardation, Silver-Russell syndrome (SRS), disorders of sex development (DSD), ectrodactyly (split hand/foot malfor...

N Engl J Med. 2018 Sep 13;379(11):1042–1049.doi: 10.1056/NEJMoa1800024. PMID: 30207912This case report describes two sisters with 46,XX karyotype and hypergonadotropic hypogonadism – i.e. ovarian dysgenesis. They had normal general development and normal cognition. With estrogen replacement they developed normal sex characteristics and reached their target he...

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: In this experimental study, pancreas-derived mesenchymal stem cells (PMSCs) were implanted into the kidney capsule of mice with streptozotocin (STZ)-induced diabetes. PMSCs led to increased levels of IL-6 in T-helper 1 and T-helper 17 cells, which transiently activated tumor necrosis factor-alpha (TNF-α) and interferon-gamma (IFN-γ), which in turn decreased levels of interleukin-17. This was associated with exocrine pancreas regeneration and rescue of ...