ESPE Abstracts

Introduction: McCune–Albright syndrome (MAS) is a genetic disorder characterized by constitutive activation of Gsα, resulting in excessive activity of multiple hormones. The most known clinical characteristics are the presence of polyostotic fibrous dysplasia (FD), hyperpigmented skin spots, and gonadotropin-independent precocious puberty (PP). However, other endocrine manifestations can be found like hypophosphatemic rickets due to FGF-23-induced renal phosphate was...

Background: Wolfram syndrome is a rare progressive genetic neurodegenerative disorder connected with diabetes mellitus, diabetes insipidus, optic atrophy, deafness, neurologic, and endocrine abnormalities. Wolfram syndrome is inherited in autosomal recessive manner – due to mutation of the WFS1 gene which is located on chromosome 4.Objective and hypotheses: A 9-year-old boy, diagnosed with diabetes mellitus at the age of 5.5 years, was admitted to h...

Background: Ovarianleucodystrophies are one of the rarest leucodystrophies associated with primary ovarian failure. Patients may present with variable disease manifestations such as neurologic, psychiatric or ovarian failure. Disease onset may occur in infancy, adolescence or adulthood caused by mutation in the eukaryotic initiation factor 2B (eIF2B) which has a poor prognosis.Objective and hypotheses: Seventeen-year-old girl was brought with tremor, gai...

Background: Multiple anterior pituitary hormone deficiency (MPHD) may present in the newborn period or in early infancy with hypoglycemia, prolonged cholestatic jaundice micropenis, undescended testes due to GH, ACTH, and LH deficiency. Central hypothyroidism is becoming manifest later, less severe than primary hypothyroidism, usually without intellectual impairment. A male patient was admitted to our clinic with severe short stature at the age of 2 years, born with normal len...

Background: The amount and distribution of genetic diversity in and among human populations are primarily determined by our recent evolutionary past. Since the Mid-Pleistocene, about 700 000 years ago, our evolution has been dominated by population expansions coupled with admixture, recurrent genetic interchange (gene flow), and local adaptation.Objective and hypotheses: To understand the evolutionary factors influencing present-day genetic variation in ...

Background: Congenital primary adrenal insufficiency (PAI) can occur as three types: isolated glucocorticoid or mineralocorticoid deficiency, or global adrenal insufficiency, with combined mineralo and glucocorticoid deficiency. Once the most frequent genes (CYP21A2, ABCD1…) have been discarded by biological tests, many other genes may be involved in each type, and one gene may be responsible of different types. Consequently, there is no real decision tree in th...

Background: Childhood obesity is a global health problem and co-morbidities develop already during childhood and adolescence. Male obesity impacts negatively on reproductive function. Testosterone is decreased, sperm quality reduced, and the physical and molecular structure of germ cells altered in obese males. However, less is known about the role of prepubertal obesity on future reproductive function. We therefore explored Leydig cell function and reproductive potential in a...

Background: The melanocortin-4-receptor gene (MC4R) is a key regulator for appetite and satiety. MC4R mutations account for 6–8% of severe obesity in children with variable expression and penetrance.Case presentation: A 3-year-old girl is presented with severe early onset and progressive obesity. She was born full-term with appropriate of gestational age weight by non-consanguineous parents. She had normal psychomotor milestones an...

Background: Obesity in children is already a global health problem. Obese children and adolescents with insulin resistance provide the pediatric healthcare professionals management challenge. Obesity with insulin resistance, dyslipidemia and elevated blood pressure constitute the metabolic syndrome and each of these is an independent risk factor for cardiovascular disease (CVD). Metformin is well-established oral hypoglycaemic agent in the treatment of adult and young patients...

Background: Prader–Willi syndrome (PWS) is caused by absence of expression of imprinted genes on the paternal chromosome 15 (15q11.2–q13) due to a paternal deletion, maternal uniparental disomy 15 and rarely an imprinting defect. The clinical signs of PWS are hypotonia, muscle weakness, excessive eating, morbid obesity, delayed global development, hypogonadism, and short stature. Marfan syndrome is caused by mutations in the FBN1 gene, located on chromosome ...