ESPE Abstracts

Objective: To screen and identify serum differentially expressed proteins in girls with rapidly progressing central precocious puberty and healthy girls by proteomics. Methods: 15 idiopathic central precocious puberty girls and 15 healthy children were admitted to the Children’s Hospital of Suzhou University from August 2017 to October 2018.After mixing in the group, the high-abundance protein was removed and quantified ...

Background: When a baby presents with atypical genitalia, the most important diagnosis to consider is 21-hydroxylase deficiency (21OHD, CAH, 46,XX). However, primary adrenal insufficiency (PAI) can also occur in 46,XY children with differences in sex development (DSD), although this is less common. Known causes of 46,XY DSD-PAI include high blocks in steroidogenesis (STAR, CYP11A1); steroidogenic enzyme defects (HSD3B2, CYP17A1</...

Background: Prenatal dexamethasone treatment (Pdex) has been used since the 1980s to prevent virilization in female offspring suspected to have congenital adrenal hyperplasia (CAH). However, due to lack of strong evidence for its best practice as well as limited data regarding long term adverse effects, use of dex is highly controversial. This study reveals the current medical practice regarding Pdex in female fetuses at risk of CAH due to 21 hydroxylase defic...

Introduction: Improvements in the treatment of acute lymphoblastic leukaemia (ALL) and non-Hodgkin lymphoma (NHL) have increased survival, with the consequent concern about the long-term effects that childhood chemotherapy may have on ovarian function. AMH constitutes an indirect, reliable biomarker of the ovarian reserve, useful for the assessment of cancer therapy-related ovarian damage.Aim: To evaluate small ovarian f...

Introduction: Female patients treated with alkylating agents in childhood are at risk for ovarian impairment. We aimed at describing the pattern of residual ovarian function in a cohort of hematological cancer survivors, assessing the relationship between the cumulative dose of alkylating agents administered (expressed as Cyclophosphamide Equivalent Dose - CED) and Anti-Müllerian Hormone (AMH) levels.Methods: Gonada...

Introduction: Hypogonadotropic hypogonadism (HH) is a rare condition, where a definitive diagnosis is often hard to reach.Objectives: To describe the clinical, biochemical and genetic findings in cases with suspected HH in the West of Scotland who were referred for genetic analysis between 2016 and 2020.Methods: Information was collected on clinical assessment including family hist...

Introduction: In children, estradiol (E2) concentrations are 1000-times lower in comparison to their precursors, the androgens. Depending on sex, age, and pathology, plasma concentrations vary in a broad range. The sensitive and specific determination of E2 is a particular challenge in pediatric endocrinology. Here we report a female patient aged 12 6/12 years and Tanner stage B1 with a presumed diagnosis of ovarian insufficiency. She showed a very high E2 con...

Background: epidemiological studies reported an increased incidence of central precocious puberty (CPP) during the last year compared to previous year. Confinement measures and consequent daily routine modifications applied to contain coronavirus infectious disease-19 (COVID-19) contagion have been proposed as a cause of this phenomenon. Our study aims in investigating changes in CPP rates in a tertiary paediatric endocrinology outpatient clinic of South Italy...

Have a real increase in precocious and advanced puberty with COVID19? Retrospective observational analytical study in which we compared the incidence of first consultations made by early thelarchies between the months of March to December 2019 and between March and December 2020 at the Pediatric Endocrinology(PE)consultation in our hospital, and the increase in diagnosis of precocious puberty (PP)and advanced puberty (PA) in the cases evaluated for this reason, with the aim of...

Introduction: Androgen insensitivity syndrome (AIS) is a 46,XY difference of sex development (DSD) classically caused by mutations in the X-chromosomal androgen receptor (AR) gene. Nevertheless, in over 50% of individuals with clinical AIS no AR coding gene mutation can be found. We previously established an assay (apolipoprotein D (APOD) assay) that measures androgen dependent AR-activity in genital skin fibroblasts (GFs). Using this assay we identified a gro...