ESPE Abstracts

Background: Inter-individual differences in the metabolism of cortisol have been postulated to emerge during puberty, and might be explained by a complex interplay of genetic and environmental factors. The aim of the current study was to estimate the relative contributions of genetic, shared environmental, and unshared environmental factors on cortisol metabolism in a longitudinal twin cohort assessed at pre-pubertal, mid-pubertal and post-pubertal ages....

Introduction: Pathogenetic mutations in the HSD17B3, located on chromosome 9q22, lead to 17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) isoenzyme deficiency, etiopathogenetic for a disorder of sex development (DSD) with 46 XY karyotype and female phenotype at birth. 17β-HSD3 isoenzyme, expressed at testicular tissue, catalyzes the synthesis of testosterone from Δ4-androstenedione, allowing the correct development of male external genit...

Context: Congenital hypothyroidism from thyroid dysgenesis (CHTD) is mainly a sporadic and non-syndromic condition occurring in 1:4,000 live births. In contrast to rare cases of syndromic monogenic CHTD, non-syndromic (NS) CHTD shows low familial recurrence risk (~2%) and low concordance rate between MZ twins, suggesting a two-hit scenario combining post-zygotic events with either a de novo monogenic mutation or incomplete penetrance of polyg...

Background: Minipuberty denotes a period 1–6 months postnatally in boys during which a transient activation of the hypothalamic-pituitary-gonadal axis is observed. This early hormone activation can be used diagnostically in patients suspected of pituitary deficiency and differences in sex development. However, its significance for prediction of reproductive function in healthy young men is unknown.Objective: To eval...

Purpose: We aimed to determine the frequency and distribution of intracranial pathologies in patients over 8 years of age by evaluating MRI images of patients diagnosed with early puberty-rapidly progressive.Materials and Methods: The study comprised 118 female patients diagnosed with precocious puberty (PP) and rapidly progressive early puberty (RPEP). The onset of puberty in girls before the age of 8 years is defined a...

Background: IGF1 resistance syndrome (IGF1RS) is characterized by intrauterine and postnatal growth deficit with normal or supranormal IGF1 levels. Additional features may include intellectual deficit, microcephaly and dysmorphisms. IGF1RS may be caused by genomic or genetic defects affecting the IGF1R locus (15q26.3).Objective and hypotheses: To investigate the frequency of IGF1R mutations in a cohort of patients with pre- and/or postn...

Background: Bone involvement is described as a relevant sign in patients suffering Gaucher disease (GD).Objective and hypotheses: To analyze the long-term effect of enzyme replacement therapy on bone mineral density, a retrospective observational study was conducted in a cohort of 34 GD pediatric patients (14 males, 20 females, median age 11.3 years).Method: Lumbar spine (LS) (L2–L4, N: 34) and total body (TB) (N: 24) bone min...

Background: Although isolated GH deficiency (IGHD) is one of the most frequent causes of postnatal proportional undergrowth, up to 85–90% of IGHD cases are still classified as idiopathic. On the other hand, previous reports identified up to 40 different GH1 proximal promoter haplotypes, some of which show hypomorphic effects, significantly reducing GH1 expression levels.Objective and hypotheses: To investigate the frequency of ...

Aim: Few data are currently available on the reliability of the different anthropometric, instrumental and biochemical indexes in recognizing the presence of the metabolic syndrome (MetS) in severe childhood obesity. The objective of our study was to find out a simple and accurate index to use in deciding whether to initiate a search for MetS in this at-risk population.Patients and Methods: A retrospective study based on...

Background: The Prader and Quigley classifications (P/Q-C), used widely to evaluate external/internal genitalia in differences/disorders of sexual development (DSD) patients, are sometimes unsuitable for determining the stage/grade because they were originally designed to assess 46,XX 21-hydroxylase deficiency (21OHD) and 46,XY androgen receptor defects (ARD), respectively. The external masculinization score (EMS) is also used to assess masculinization of the ...