ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Proc Natl Acad Sci U S A. 2017; 114(31): E6466-E6474Cortisol production is tightly regulated in a dynamic way within the hypothalamic-pituitary adrenal system, which seems further embedded in a wider steroidogenic regulatory network (SRN). Normally, the connection from ACTH to cortisol production is in line with the HPA axis, but there are stressful events, in which t...

Brief summary: This Danish single-center retrospective study evaluated the occurrence of pathological findings on neuroimaging among children diagnosed with central precocious puberty (CPP).CPP incidence has been increasing over the last four decades (1) and is more prevalent in females than in males. Most cases are idiopathic (2) but brain magnetic resonance imaging (MRI) is routinely performed in order to exclude rare pathological causes.<p class="...

Brief summary: This study investigated how frequently negative terminology such as ‘fail’ and ‘morbid obesity’ was used in scientific publications dealing with bariatric surgery in peer reviewed journals. 2.4% of the publications analyzed included the term ‘fail’ and 16.8% contained the term ‘morbid’ in conjunction with obesity. This study showed that negative language, blaming the patient for the lack of weight loss or weight regain, wa...

Pediatrics. 2021 Jul;148(1):e2020019000. doi: 10.1542/peds.2020-019000.Brief Summary: This case report of an infant with dysgenesis of the corpus callosum, whose whole genome sequencing (WGS) revealed variants of unknown significance (VUS) in ROBO1, demonstrates the potential of VUS in guiding clinical decisions.Next-generation sequencing (NGS) is increasingly...

Horm Res Paediatr. 2021;94(11-12):456-466. PMID: 35086092Brief Summary: This study reports 2 girls with a complex phenotype associated with severe short stature and IUGR who were diagnosed with a de novo 17p13. 3 deletion by array-CGH. The deletion involved the CRK gene that transcribes for Crk protein, a component of GH and IGF-I receptor signaling pathways. In vitro assay confirmed defective CRK expression and GH/IGF1 signali...

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...

To read the full abstract: J Clin Endocrinol Metab, April 2020, 105(4):e1478–e1488Silver–Russell syndrome (SRS) is a rare condition associated with pre and postnatal growth retardation. The most common causes of SRS are 11p15 ICR1 loss of methylation (LOM) and maternal uniparental disomy of chromosome 7 (mUPD7). Almost all patients with SRS have a history of intrauterine growth retardation (IUGR) and may be born small for gestational a...

To read the full abstract: Hum Reprod. 2018 Nov 1;33(11):2122–2130This longitudinal study of 31 patients (14 males) with Silver-Russell syndrome (SRS) and 123 non-SRS small-for-gestational-age (SGA) patients (65 males) shows that Sertoli cell dysfunction is more common in SRS males, with 11p15 loss of methylation (LOM), but gonadal function seems to be unaffected in SRS females....

To read the full abstract: J Clin Endocrinol Metab 2018;103:1459-1469The ESPE guidelines on CH recommend an initial LT4 dose of 10-15 microgram/kg per day1. Infants with severe CH, defined by a very low pretreatment TT4 or FT4 concentration, should be treated with the highest initial dose. However, little is known about long-term effects on developmental and...

To read the full abstract: J Pediatr 2018; 198: 260-264The incidence of T1DM in children <15 years is increasing at an overall annual relative rate of 3.9% (95% CI 3.6-4.2) [11]. The prevalence of GHD is estimated at approximately 1:4000 to 1:10000 [12-14]. Management of the very rare patients who have both T1DM and GHD raises questions of efficacy and safety of ...