ESPE Abstracts

Background: Neural crest (NC) cells emerge at the interface between neural and non-neural ectoderm, and migrate extensively to form a variety of NC derivatives such as peripheral neurons, glia, melanocytes, endocrine cells, and mesenchymal precursor cells. NC cells possess various unique properties and are capable of undergoing cell fate decisions across multiple tissues and germ layers. In zebrafish and mouse, GnRH neurons are reported to arise also from NC.<p class="abst...

Background: Gender differences in sex steroids and IGF1 are well known from pubertal years into adulthood. Few studies report data from pre-school years.Objective and hypotheses: To study gender specific changes in sex steroids and IGF1 at birth and at 5 years of age and correlate these with auxological measurements. There are gender differences in IGF1 levels due to differences in sex steroids already at birth and during pre-school years.<p class="a...

Objectives: In laboratory medicine, external quality assessment (EQA) schemes have become versatile tools for the detection of analytical flaws. However, for pediatric sex steroid levels EQA schemes are lacking. We aimed to investigate the suitability of different estradiol and testosterone immunoassays in a pediatric setting, in comparison with clinical liquid chromatography-tandem mass spectrometry (LC-MS/MS) assays.Methods:</s...

Background: Androgen insensitivity syndrome (AIS) is an X-linked hereditary disease with AR gene loss-of-function mutations in 46,XY patients. They undergoes poor development of secondary sex characteristics, except for breast development at puberty. AIS patients are prone to develop germ cell cancer, even though with lower incidence than in dysgenetic gonads secondary to defects in organogenesis.Case presentation: We described a 3-years-old gir...

Background: Pseudohypoparathyroidism (PHP) is a rare group of disorders characterised by end-organ resistance to parathyroid hormone (PTH), and possibly TSH, with or without features of Albright’s hereditary osteodystrophy.Case presentation: A 14-year-old boy presented with fatigue and spontaneous carpal spasms in association with a febrile viral infection. Past medical history was significant for an episode of asymptomatic hypocalcemia treated with...

Introduction: Worldwide the incidence of small for gestational age (SGA) births varies between 2 and 10%. In Bulgaria there is not enough data for the SGA births prevalence in the last 20 years. There is only one population based study focused on late SGA complications that found the world-known relative share of SGA children who don’t catch up - about 10%. The indicated growth hormone treatment is still not reimbursed in the country for short SGA childr...

Background: Ovarian dysfunction is one of the most common features of Turner syndrome (TS). Oocyte apoptosis is accelerated from early fetal life, more typical for 45,X karyotype. Hypergonadotropic hypogonadism (HH) is characteristic manifestation of dysgenetic ovaries, and estrogen replacement therapy (ERT) is standard for delayed puberty. Development of ovarian follicles is largely under FSH control, and possible ovarian hyperstimulation of elevated FSH in T...

The purpose of this study is to determine the frequency of occurrence and molecular-genetic characteristics of MODY in patients with diabetes mellitus aged 1 to 18 years, residents of St. Petersburg.Materials and methods: In St. Petersburg in 2017, there were 1620 patients with diabetes mellitus under the age of 18 years. 54 of them had evidence of hereditary variants of diabetes with chronic hyperglycemia at normal c-peptide indices for 2 years after th...

Autoimmune polyglandular syndrome type 1 (APS-1) is also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). Clinical manifestations are widely variable. It is an autoimmune disease which is characterized by the triad hypoparathyroidism, Addison disease, and chronic mucocutaneous candidiasis. However, several other autoimmune disorders, not necessarily endocrinological, differing in number and severity, may be present. APS1 is mostly caused by mut...

Background: The integration of technology in health care has led to improved medical care and better compliance, especially in chronic diseases such as diabetes. Despite these advances, compliance has always been an issue in caring for adolescents with diabetes. Text messaging has become a popular way to communicate with peers especially for teens. Multiple studies support the theory that texting is an easy and affordable resource that health care providers can utilise to educ...