Neonatal Screening for Congenital Adrenal Hyperplasia in Denmark: 10 Years of Experience
Conclusion: Neonatal screening for SW-CAH has not led to an increase in the incidence of newborns diagnosed with SW-CAH. The screening algorithm has effectively identified newborns with SW-CAH. After 2009, there was a tendency towards a lower proportion of newborns with salt-wasting crisis at diagnosis. Finally, the study emphasizes the benefits of using second-tier screening as well as repeated screening of premature newborns. (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - February 3, 2022 Category: Endocrinology Source Type: research
John Scott Parks (October 1939 –December 2021)
Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - February 3, 2022 Category: Endocrinology Source Type: research
Current and novel treatment strategies in children with congenital adrenal hyperplasia
Background: The standard treatment for congenital adrenal hyperplasia (CAH) in children is still hydrocortisone. Improved strategies for timing of the dose during the day and the dose per square meter body surface area used in children of different age and developmental phase have improved the situation and outcome for the patients. Neonatal screening enables an earlier diagnosis and initiation of treatment, prevents from adrenal crisis and improves growth and development also for children with the less severe forms of CAH.
Summary: This review describes the current treatment strategies for children with congenital adrena...
Source: Hormone Research in Paediatrics - January 27, 2022 Category: Endocrinology Source Type: research
Crk Haploinsufficiency Is Associated with Intrauterine Growth Retardation and Severe Postnatal Growth Failure
Conclusion: Our results suggest that 17p13.3 microdeletion involving CRK affects both GH and IGF1 signaling ultimately leading to pre- and postnatal growth retardation, secondary to partial insensitivity to GH/IGF1. rhGH therapy may be considered to reduce the height deficit in these patients, though data on adult height are lacking.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - January 27, 2022 Category: Endocrinology Source Type: research
DNMT3A and TET2; Potential Estimates of Generic DNA Methylation in Children and Adolescents with Obesity; Relation to Metabolic Dysregulation
Introduction: The role of DNA methylation in metabolic dysregulation is emerging. However, the functional role of methylation in obesity and metabolic dysregulation is poorly understood. Aim: to compare DNA methyltransferase-3A (DNMT3A) and ten eleven translocase-2 (TET2) levels in children and adolescents with obesity to normal weighed children and adolescents, and to correlate them to various metabolic parameters. Methods: Fifty children and adolescents with obesity were compared to fifty matched normal weighed children and adolescents. Participants underwent assessment for anthropometric measurements, Tanner staging, ac...
Source: Hormone Research in Paediatrics - January 21, 2022 Category: Endocrinology Source Type: research
The Timing of Genital Surgery in Somatic Intersexuality: Surveys of Patients ’ Preferences
This study provides a review of published surveys of affected patients ’ own opinions on this issue. In part with search of PubMed 2000–2021, 10 pertinent surveys of patients were identified: 3 from the USA; 4 from European countries; and one each from Brazil, China, and Malaysia. All were based on samples of clinic patients, most of whom had previously undergone g enital surgery. The majority of both XX and XY patients with somatic intersexuality favored early surgery, with somewhat more syndrome-specific variability in XY patients. The available survey data clearly indicate that a mandatory delay of genital surgery i...
Source: Hormone Research in Paediatrics - January 19, 2022 Category: Endocrinology Source Type: research
The Timing of Genital Surgery in Somatic Intersexuality: Surveys of Patients' Preferences
This study provides a review of published surveys of affected patients ’ own opinions on this issue. In part with a search of PubMed 2000-2021, ten pertinent surveys of patients were identified: three from the U.S., four from European countries, and one each from Brazil, China, and Malaysia. All were based on samples of clinic patients, most of whom had previously un dergone genital surgery. The majority of both XX and XY patients with somatic intersexuality favored early surgery, with somewhat more syndrome-specific variability in XY patients. The available survey data clearly indicate that a mandatory delay of genital ...
Source: Hormone Research in Paediatrics - January 19, 2022 Category: Endocrinology Source Type: research
Osilodrostat for Cushing disease and its role in pediatrics
We present the main outcomes of clinical trials of osilodrostat (Isturisa ®, Recordati) for Cushing disease, and its initial development as an aldosterone synthase inhibitor. Osilodrostat is indicated only when the surgical therapy of the pituitary adenoma is not an option or has not been curative; additionally, other steroidogenesis inhibitors were briefly summarized. C linical trials of osilodrostat in children are lacking and we describe its potential role in the pediatric population.
KEY MESSAGES: Osilodrostat is the first adrenal steroidogenesis inhibitor to be EMA- and FDA-approved (both in 2020) for the treatment o...
Source: Hormone Research in Paediatrics - January 19, 2022 Category: Endocrinology Source Type: research
Sulfonylurea-insensitive permanent neonatal diabetes caused by a severe gain-of-function Tyr330His substitution in Kir6.2
Conclusions: In this subject, the KCNJ11(c.988T>C) mutation provoked neonatal diabetes, with mild developmental delay, which was insensitive to correction by sulfonylurea therapy. This is explained by the molecular loss of sulfonylurea sensitivity conferred by the Tyr330His substitution, and highlights the need for molecular analysis of such mutations. (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - January 7, 2022 Category: Endocrinology Source Type: research
Monogenic forms of DSD: An update
DSD encompasses a wide range of pathologies that impact gonad formation, development and function in both 46,XX and 46,XY individuals. The majority of these conditions are considered to be monogenic, although the expression of the phenotype may be influenced by genetic modifiers. Although considered monogenic, establishing the genetic etiology in DSD has been difficult compared to other congenital disorders for a number of reasons including the absence of family cases for classical genetic association studies and the lack of evolutionary conservation of key genetic factors involved in gonad formation. In recent years, the ...
Source: Hormone Research in Paediatrics - December 28, 2021 Category: Endocrinology Source Type: research
Diagnosis of Growth Hormone Deficiency Remains a Judgment Call – and That Is Good
The diagnosis of growth hormone deficiency (GHD) still does not reflect evidence-based and generally accepted practice, and reliance on growth hormone stimulation testing (GST) leads to a high rate of false-positive diagnosis of idiopathic-isolated GHD (IIGHD). While searching for more definitive indicators of GHD is attractive, it should not distract from currently available steps to reduce erroneous IIGHD diagnoses. This paper describes opportunities to improve the accuracy of the GST which include: (1) meticulous selection of candidates for GST, since a low prevalence of GHD among short children in general is a major fa...
Source: Hormone Research in Paediatrics - December 22, 2021 Category: Endocrinology Source Type: research
The diagnosis of growth hormone deficiency remains a judgment call – and that is good
Abstract: The diagnosis of GHD still does not reflect evidence-based and generally accepted practice, and reliance on growth hormone stimulation testing (GST) leads to a high rate of false positive diagnosis of idiopathic isolated GHD (IIGHD). While searching for more definitive indicators of GHD is attractive, it should not distract from currently available steps to reduce erroneous IIGHD diagnoses. This paper describes opportunities to improve the accuracy of the GST which include: 1) meticulous selection of candidates for GST, since a low prevalence of GHD among short children in general is a major factor undermining th...
Source: Hormone Research in Paediatrics - December 22, 2021 Category: Endocrinology Source Type: research
Impact of Type 1 Diabetes Mellitus on Bone Health in Children
This paper gives an overview of the impact of type 1 diabetes on bone health in children and adolescents. Firstly, we analyse studies using dual X-ray absorptiometry to assess bone mineral content and bone mineral density. Then, we discuss modern, non-invasive techniques including peripheral quantitative computer tomography (pQCT) and high-resolution pQCT for the detailed assessment of bone health aspects including bone mass, bone geometry, bone microarchitecture, and bone strength. Thereafter, we explore some of the mechanisms that are responsible for diabetic bone disease in children, like low bone turnover and high scle...
Source: Hormone Research in Paediatrics - December 22, 2021 Category: Endocrinology Source Type: research
The impact of type 1 diabetes mellitus on bone health in children
This paper gives an overview of the impact of type 1 diabetes on bone health in children and adolescents. First, we analyse studies using DXA (dual x-ray absorptiometry) to assess BMC (bone mineral content) and BMD (bone mineral density). Then, we discuss modern, non-invasive techniques including pQCT (peripheral quantitative computer tomography) and HRpQCT (high-resolution peripheral quantitative computer tomography) for the detailed assessment of bone health aspects including bone mass, bone geometry, bone microarchitecture and bone strength. Thereafter, we explore some of the mechanisms that are responsible for diabetic...
Source: Hormone Research in Paediatrics - December 22, 2021 Category: Endocrinology Source Type: research
Assessment of gonadotropin concentrations stimulated by gonadotropin-releasing hormone analog by electrochemiluminescence (ECLIA) in girls with precocious puberty and premature thelarche
Objective: The aim of this study is to determine the cutoff values of gonadotropin response to gonadotropin-releasing hormone analogs (GnRHas) corresponding to the activation of the hypothalamic –pituitary–gonadal axis that could differentiate central precocious puberty (CPP) from premature thelarche (PT) and using the electrochemiluminescence assay method. Methods: A total of 49 girls underwent the stimulation test with the intramuscular injection of 3.75 mg leuprolide acetate. Based o n the clinical and laboratory characteristics, they were divided into two groups: CPP (n = 22) and PT (n = 27). Baseline estradiol, lu...
Source: Hormone Research in Paediatrics - December 21, 2021 Category: Endocrinology Source Type: research
