ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This cohort study identified genetic variants associated with thyroid dyshormonogenesis as a cause of congenital hypothyroidism in Southern Taiwan. It reviewed 876 CH patients diagnosed between 2011 and 2022 and examined the genetic etiology in 47 cases of TDH using whole-exome sequencing (WES).The etiology of congenital hypothyroidism (CH) can be attributed to either thyroid dysgenesis (TD) or thyroid dyshormonogenesis (TDH) with TD usual...

Brief Summary: This multicenter, double-blind, randomized, placebo-controlled trial evaluated the effects of vitamin D supplementation (14,000 IU D3 weekly for 3 years) on fracture risk and other bone health indicators in 8,851 schoolchildren aged 6–13 years in 18 public schools in Mongolia, where vitamin D deficiency is highly prevalent with a high fracture burden.Vitamin D3 doses were given during weekly face-to-face visits in schools. Families co...

Brief Summary: This cross-sectional survey of healthcare professionals and administrators in Indonesia investigated the many challenges raised during implementation of a national newborn screening program for congenital hypothyroidism (CH).Despite initiation of Newborn Screening (NBS) for CH in Indonesia between 2000 and 2010 and expansion more recently, only 2.3% of newborns were screened in 2022. This national survey aimed to identify barriers to wider...

Brief Summary: This retrospective cohort study analyzed data from 97 cases of 17α hydroxylase/17,20 lyase deficiency identified in Turkey. It focused on diagnostic testing, laboratory characteristics, long-term outcomes and therapeutic management.This nationwide study focuses on 17α-Hydroxylase/17,20-Lyase deficiency (17OHD), a rare form of congenital adrenal hyperplasia (CAH) caused by mutations in the CYP17A1 gene. The research aims to evalua...

Brief Summary: This case-series describes the clinical characteristics and genetics of 8 patients with hereditary hypophosphatemic rickets (HHR). It highlights the challenges faced in diagnosis and management.Hypophosphatemic rickets (HHR) is often underdiagnosed or misdiagnosed, leading to delays in proper treatment. Misdiagnosis can result in inappropriate therapies and worsening of the condition. The cases presented highlight the importance of compreh...

Brief Summary: This process study describes the adaptation of previously established clinical practice guidelines for hyperthyroidism to better suit the local healthcare context in Pakistan. Adaptation utilized the GRADE-ADOLOPMENT method.Hyperthyroidism is more prevalent in Pakistan (2.9%) than in the US and Europe. Pakistan faces unique challenges due to its diverse geography, dietary habits, and healthcare financing issues. Local guidelines are needed...

Brief Summary: This retrospective, multicenter study examined patients who were diagnosed with congenital hypothyroidism (CH) through the newborn screening (NSP) program in Turkey. It assessed the prevalence of temporary congenital hypothyroidism (TCH), examined the causes of permanent congenital hypothyroidism (PCH), and identified laboratory and clinical indicators to distinguish TCH and PCH.Congenital hypothyroidism (CH), the most prevalent endocrine ...