ESPE Abstracts

Background: Since the initiation of neonatal screening-programs for congenital hypothyroidism (CH) in the 1970’s, an increase in the incidence of CH has been observed. This change has been attributed to the gradual use of lower TSH cut-offs that lead to the detection of milder cases of CH. Based on currently used screening cut-offs, CH occurs in approximately 1:2 000 to 1:4 000 newborns, varying by geographic location and ethnicity. A female predominance, approaching a 2:...

Background: Implementation of neonatal screening programs for congenital hypothyroidism (CH) has reduced related nosologies and has eradicated CH-associated mental impairment. With the decrease of the TSH cut-off limits employed to avoid false negative results, milder cases of CH are diagnosed. Obviously, in a number of patients, especially among milder CH cases, thyroid dysfunction is transient. The diagnosis of transient vs. permanent CH is established in time. No specific p...

Background: In premature adrenarche (PA) children bone age (BA) may be greater than chronological age (CA), however final height is usually within target height (TH).Objective and hypotheses: Aim of the study was to evaluate the evolution of BA in girls with PA.Method: We studied retrospectively the files of 60 girls with PA followed in our unit. Anthropometric data and Tanner pubertal status were determined in each visit and BA wa...

Background: The prevalence of childhood obesity has increased dramatically in the last decades and accounts for a significant increase in morbidity and mortality in adulthood.Objective and hypotheses: To determine the prevalence of 25-hydroxyvitamin D insufficiency and deficiency in overweight and obese children and adolescents.Method: 350 (n=350) children and adolescents (153 males (M), 197 females (F)) were recruited to ...

Background: NR5A1/SF-1 variants result in a wide range of phenotypes including DSD, male infertility, and primary ovarian insufficiency (POI). Little is known of how NR5A1/SF-1 variants affect puberty in individuals with or without DSD. This study aimed to assess the impact of NR5A1/SF-1 variants on pubertal development and investigate whether abnormal puberty is linked to the severity of DSD in an international cohort with NR5A1...

Background: Inhibin consists of two homologous subunits, the α (INHA) and the βA or βB subunits (INHBA/INHBB). Both inhibins play an important role in the hypothalamic-pituitary-gonadal axis by regulating the follicle stimulating hormone levels. INHA knockout mice develop mixed or incompletely differentiated gonadal stromal tumours. In females, some INHA variants have been associated with primary ova...

Background: Loss of function variants in Steroidogenic Factor 1 (NR5A1/SF-1) lead to a broad spectrum of phenotypes, but data on the whole picture of phenotypes are currently lacking. We aimed to investigate the phenotype of individuals with SF-1 variants in a large international cohort.Methods: We identified the individuals through the international I-DSD network and through contacting researchers from previous publicat...

Background: Deficiency of 21-hydroxylase (CYP21A2) is responsible of 90-95% of all cases of congenital adrenal hyperplasia (CAH). CYP21A2 converts 17OHprogesterone into 11deoxycortisol and is encoded by the CYP21A2 gene on chromosome 6p21.3, within the class III region of the highly polymorphic HLA histocompatibility complex. CAH refers to a group of autosomal recessive disorders. Nonclassic CAH (NCAH) is milder and more common, however it may not be identifie...

Background: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive genetic defects in cortisol synthesis caused by the deficiency of 21-hydroxylase which convert 17-hydroxyprogesterone to 11-deoxycortisol. A variety of mutations in one or more genes encoding enzymes essential for cortisol synthesis leads to a spectrum of disorders and disease severity. In general, complete or nearly complete enzymatic defects result in overt adrenal insufficien...

Background: Obesity has been associated with perturbations of the hypothalamic–pituitary–adrenal (HPA) axis and the sympathetic nervous system (SNS). Scalp hair cortisol has been recognized as a reliable index of long-term cortisol concentrations.Objective and hypotheses: Aim of this study was to compare indices of HPA axis and SNS activities, such as, respectively, the salivary cortisol and alpha-amylase diurnal patterns, and their relations i...