ESPE Abstracts

Background: Data on congenital isolated growth hormone deficiency (cIGHD), mostly due to consanguinity, treated in childhood and followed into adult age is very rare and on few patients.Aim: To assess the clinical and social characteristics of adults with cIGHD who were treated in childhood and followed thereafter.Subjects: Thirty nine patients with cIGHD from our clinic were followed into adult age (mean age 30.7±13.3). All w...

Background: Primary ovarian failure is (POF) characterised by primary amenorrhoea or early menopause in females. Minichromosome maintenance 10 (MCM10) is a gene involved in DNA damage repair, DNA replication and chromatin formation has received attention as a potential genetic etiology for neoplastic disease. Drosophila with mutated MCM10 have subfertility and dysfunction in female germline development. In humans, biallelic mutations of the MCM10 causes NK cel...

Background: Severe Ovarian Dysgenesis (OD), a rare heterogeneous XX disorder of Sex Development (XX-DSD) presents clinically with primary amenorrhea, hypergonadotrophic hypogonadism and infertility. The genetic basis of OD remains unknown in about 70% of cases. To identify novel causes of OD, we study patients in which known genes have been excluded.Methods: Whole-exome-sequencing was performed on DNA extracted from peri...

Objectives: Given the critical role of linear growth and peak bone mass attainment in childhood and adolescence, this study sought to elucidate the effects of a low carbohydrate diet (LCD) versus a Mediterranean diet (MED) on bone turnover markers (BTM) in adolescents with type 1 diabetes (T1D).Methods: In an open-label, randomized controlled trial, 40 individuals with type 1 diabetes, aged 12-22 years, were randomly ass...

Objective: The overarching hypothesis explored in this research was discerning the relations between the neuro-cognitive accomplishments of adolescents with T1D patients and healthy siblings of similar age, according to the transient glucose excursions, and the quantitative parameters of white matter in specific pathways according to glycaemic control.Research Design and Methods: A case-control study included 12-18 years...

Background: Androgen Insensitivity syndrome (AIS), the most common cause of XY DSD, is an X-linked recessive allelic disorder caused by Androgen Receptor (AR) gene mutations. The complete form (CAIS) stems from abrogation of AR activity and is characterized by an external female phenotype and scarce pubic hair, as well as lack of Mullerian structures. Postnatal gonadotropin and testosterone levels are not increased, and the classical ‘Mini-puberty’...

Background: Poor growth and inadequate nutrient intake by food allergic children have been suggested, particularly for children avoiding milk.Objective and hypotheses: To investigate the impact of a dairy-free diet on the final stature of IgE-mediated Cow Milk Allergy (IgE-CMA) young adults.Method: Anthropometric data was measured in 60 IgE-CMA patients (20.4±3.4 years old, 26 males (43%)) and 36 volunteers without IgE-CMA (co...

Background: Sexual lifestyles including sexual activity, problems, satisfaction, and the formation of relationships, are greatly affected by physical health disorders. Fear from hypoglycemic episodes during sexual intercourse and intimacy issues can impact young adults with type 1 diabetes (T1DM).Objective and hypotheses: To assess sexual lifestyles of people with T1DM.Method: A total of 53 T1DM patients (51% males), mean±SD a...

Background: Turner syndrome (TS) is a genetic disorder caused by X chromosome monosomy (45,X0) or partial absence of the second sex chromosome, with or without mosaicism. An increased frequency of autoimmune diseases and metabolic disorders has been observed in Turner patients.Objective: To compare Turner monosomy to the other X chromosome abnormalities with regards to occurrence of autoimmune diseases and metabolic disorders.Metho...