ESPE Abstracts

Background: Anogenital distance (AGD) is an indicator of androgen action in utero. Reduced AGD has been found in males with hypospadias, cryptorchidism, low semen quality and infertility. Its usefulness as a clinical marker in patients with Disorders of Sex Development (DSD) is currently being investigated. However, detailed age, sex and method related reference ranges do not exist. Whether individual (body-size-adjusted) AGD is stable postnatally also remains to be e...

Background: FSH stimulates ovarian follicle maturation and estradiol synthesis which is responsible for breast development. Age at pubertal onset varies substantially among healthy girls. Although more than half of the variation is heritable, only a small part has been attributed to specific genetic polymorphisms identified so far.Objective and Hypotheses: We assessed the effect on pubertal onset of three genetic polymorphisms affecting FSH action.<p...

Background: Since the late 1960’s, pubertal breast staging has been based on Tanner’s classification. Appearance of glandular breast tissue may be difficult to distinguish by palpation from the surrounding subcutaneous fat tissue, especially in obese girls. To our knowledge, validation of the clinical assessment of pubertal stages by MRI quantification of glandular breast tissue has never been performed.Objective and hypotheses: i) To report no...

Objective: To accumulate the information in the long-term studies of the variation of the limb segments length and proportion in the process of growth and development of children, we have measured and summarized the average level of limb segments length for the children and adolescents in the main urban area of Chongqing, calculated the ratios of limb segments length to height and extremities-trunk ratio, body proportions, and analyze their age trends.Me...

Background: Primary ovarian insufficiency (POI) is genetically mediated in up to 30% of cases. Many genes associated with POI have roles in early ovary developmental processes, including meiosis.Objectives: We investigated the genetic mechanism underlying early-onset POI in three young women presenting with absent puberty: two sisters from a consanguineous pedigree and a third unrelated proband.<st...

Introduction: PMM2-CDG is the most common congenital disorder of glycosylation (CDG). Since glycoproteins are involved in every endocrine axis, PMM2-CDG patients have a high risk of developing endocrinopathies.Case report: We describe two 12 years-old female PMM2-CDG patients with severe short stature and no clinical sign of puberty. One patient showed low serum levels of insulin-like growth factor-1 (IGF-1) and IGF bind...

Introduction: High doses of biotin are reported to cause incorrect results in various immunoassays in some patients. However, there is no systematic study regarding biotin interference in childhood.Aim: To assess thyroid function with different methods in subjects with biotinidase deficiency, to determine the factors causing interference, and to investigate the efficiency of the methods for overcoming interference.Method: The study...

Background: Sexual maturation is closely linked to growth, suggesting common pathways between the reproductive development and the growth hormone/insulin-like growth factor-I (GH/IGF-I) axis. IGF-I bioavailability is regulated by Pregnancy associated plasma protein-A (PAPP-A), Pregnancy associated plasma protein-A2 (PAPP-A2) and Stanniocalcin 2 (STC2). A large genome-wide association study (GWAS) identified PAPP-A, PAPP-A2 and STC2 to represent loci strongly a...

Introduction: The metabolically healthy obese phenotype (MHOF) defines obese patients who have preserved insulin sensitivity and who do not have metabolic complications: lower risk of cardiovascular disease and type 2 diabetes in adulthood. Recent studies indicate that TMI (kg/m3) estimates the percentage of body fat more accurately than the BMI and it has been proposed to substitute the use of the BMI z-score values by those of the TMI. TMI values ...

Background: The aim of this study was to analyze the impact of the COVID-19 pandemic lockdown on behaviors and subsequent changes in BMI in children from southern Poland.Methods: The study included 206 participants (104 females and 102 males) with a complete analysis of 177 (96 females and 81 males) with a mean age of 12.8 ± 2.6 years admitted to three pediatric endocrinology clinics (Rzeszów, Kraków, and ...