ESPE Abstracts

The synthesis of many peptides involves several post-translational steps which converts precursors into bioactive peptide. One of these steps results in the α-amidation of the C-terminal from a glycine through a bifunctional enzyme called the peptidylglycine α-amidating monooxygenase (PAM). Although the physiological role of Kisspeptin (KP) in the control of GnRH secretion is well known, the exact molecular form of the bioactive hypothalamic KP remains elusive. By ...

Prenatal treatment of CAH has been employed since the mid 1980’s, but long-term evaluation of this experimental treatment is scarce. In utero replacement with dexamethasone suppresses the fetal adrenal and reduces the androgens that virilise the female CAH fetus. The CAH girls are thus born with normal external genitalia and avoid early genital surgery. There is however an ethical dilemma, since the treatment with DEX has to be initiated early in gestation before...

The changes of the immune reactivity, the production of hormones and the neuroendocrinal regulation of immune homeostasis are the entities closely connected with the puberty. There is evidence for the role of cytokines in securing of intersystemic interaction as well as for the influence of reproductive hormones on the cytokine production. However, the question as to the role of cytokine in the formation of delayed puberty continues to be relevant.<stron...

Background: The negative effect of military conflicts on the health of the child population is a proven fact. The consequences of modern military conflicts for the physical development of children are practically not studied.The aim: Of the study is to assess the nature of the physical development of children affected by the military conflict in the East of Ukraine.Materials and methods: At the 179 girls and 128 boys aged 6–18...

Introduction: Patients with congenital adrenal hyperplasia (CAH) develop advanced bone age (BA) frequently. Treatment with aromatase inhibitors can slow down bone maturation and improve final height in cases of CAH. However, safety is not clear at this point.Case Presentation N 1 15.5 yrs. old boy was diagnosed with congenital adrenal hyperplasia, salt-wasting type at 4.9 years of age. His genetic analysis revealed that ...

Background: The most common cause of permanent neonatal diabetes (PNDM) is heterozygous activating mutations in the KCNJ11 gene encoding the pore-forming Kir6.2 subunit of the pancreatic beta cell KATP channel.Objective and Hypotheses: To determine the dynamic of carbohydrate metabolism in family transferred from insulin to sulphonylureas (SU).Method: We studied a family (...

Background: MODY can be mistaken for Diabetes type 1 or type 2.Objective: To evaluate genetic background in 22 patients presented with diabetes, negative islet cell antibodies, normal C-peptide and positive family history of diabetes. Genetic testing was done at Invitae laboratory and evaluated 28 genes for diagnosis of MODY.Results: Patients were divided into 2 groups: Group 1 wit...

Case report: 14 yrs. old Hispanic girl was referred for evaluation of diabetes (Hb A1c 9.8 %) and morbid obesity BMI 36 kg/m2. She developed acanthosis nigricans, elevated triglycerides (TG) 1162 mg/dl, low HDL 34 mg/dl, fatty liver with elevated AST 84 U/l, ALT 103 U/L. The abdominal sonogram revealed significant hepatomegaly with moderate steatosis. Her islet cell AB were negative, C-peptide 3.11 ng/ml was normal. She has a strong family history of diabetes:...

Introduction: Turner syndrome (TS) is characterized by short stature and premature ovarian failure. Genetic component of TS patients with diagnosis of inflammatory bowel disease has not been largely studied.Case Report: A 94/12-year-old girl with history of Crohn’s disease was evaluated for short stature. Her disease was well controlled with medications, however she continued with linear growth failure. Medical history included...

Background: Familial partial lipodystrophy type 2 (FPLD2) is a heterogeneous rare disease characterized by selective fat loss, mainly affecting the limbs. It is attributed to LMNA gene, which encodes lamins A and C, structural proteins components of the nuclear lamina. LMNA variants have been previously described with cardiac abnormalities with and without lipodystrophy in FPLD2.Case description: We describe a 1...