ESPE Abstracts

Background: Recently childhood obesity shows trends of lowering age at start. Preschool children are still very physically active. A possible association between total and abdominal obesity and metabolic risk at preschool age could be of value for preventive measures.Objective and hypotheses: To investigate the relationship between body composition and some metabolic risk factors at preschool age.Method: A total of 40 (50% boys) he...

Background: Non-classical congenital adrenal hyperplasia (NCCAH) is a hyperandrogenic disorder affecting negatively the psychological health and the quality of life (QoL) of patients.Aim: To evaluate the psychological health and QoL in female NCCAH patients in comparison to female age-matched healthy controls.Participants and Methods: A total of sixty-eight females, aged 10-27 year...

Introduction: Aggrecan, encoded by the ACAN gene, is an important component in the cartilage extracellular matrix. Mutations in the ACAN gene have been associated with idiopathic and familial short stature in the recent years. Bone age (BA) is often advanced, although it can be delayed or normal. Patients can have dysmorphic features like broad forehead, midfacial hypoplasia, prognathism, posteriorly rotated ears, broad and short thumbs. Bone and joint problem...

Background and Aims: Initial presentation of type 1 diabetes (T1D) is associated with different level of diabetic ketoacidosis (DKA). Four pancreatic islet cell autoantibodies (Abs) mostly associate with T1D - glutamic acid decarboxylase antibodies (anti-GAD65), tyrosine phosphatase antibodies (IA 2-Ab), insulin autoantibody (anti-IAA) and zinc transporter 8 antibodyAim: To evaluate the prevalence of DKA, the frequency o...

Introduction: Rare endocrine diseases are lifelong chronic conditions requiring constant medical follow up of the affected individuals. More common among them are patients with hypopituitarism, Turner syndrome (TS), and Prader-Willi syndrome (PWS). The age between adolescence and adulthood, despite being difficult to define by age category alone is an important time for the personal development. This time may be made more difficult if accompanied by a chronic ...

Introduction: Fenton (2013) defined small for gestational age children (SGA) as born with birth length and/or weight < 10th percentile for the corresponding gestational age, and clinicians use it ever since. According to the literature, 1 of 10 children born SGA does not catch-up in growth. Wit (2021) suggested to address them as short SGA children. Recombinant human growth hormone (rhGH) treatment in those children have been approved by the FDA in 2001 and...

Background: Polycystic ovary syndrome (PCOS) is the most common hyperandrogenic disorder in pubertal girls affecting between 3 and 11 % of them. Menstrual irregularities and hyperandrogenism are the main characteristics of the syndrome. PCOS is associated with obesity, cardiovascular complications, impaired fertility and increased cancer risk in adulthood. Some of these complications are potentially preventable with timely diagnosis, life-style change and phar...

Background: Activity dependent neuroprotective protein (ADNP) syndrome (OMIM: 615873), also known as Helsmoortel Van Der Aa syndrome (HVDAS), is an autosomal dominant monogenic neurodevelopmental disorder caused by ADNP gene mutations. It is characterized with impaired learning and motor skills, hypotonia, dysmorphic features, organ anomalies, behavioral and psychiatric problems.Aim: To present a female patient with HVDA...

Background: Turner syndrome (TS) is a common chromosomal disorder affecting approximately 1:2500 live female births caused by partial or complete absence of one X chromosome. Its most common clinical features are short stature and gonadal insufficiency. Only about a third of girls with Turner syndrome may have spontaneous puberty.Objective: The aimof this case presentation is to describe the clinical manifestations in th...

Background: Precocious pubarche (PP), defined as the development of pubic hair before 8 years of age in females could be the first sign of a hyperandrogenic condition.Aim: The purpose of the study was to analyze the etiology of premature androgenization of girls with a history for PP and to evaluate their clinical, laboratory and ovarian ultrasound profile.Material and methods: A t...