ESPE Abstracts

Background: B-Lymphocyte kinase gene (BLK) gene acts on insulin synthesis and secretion, and mapped locus on chromosome 8p23. Monogenic diabetes due to BLK gene mutation is very rare and it’s named as MODY11. We aimed to present differences in clinical, laboratory and treatment of the patients with BLK mutations.Methods: OGTT performed in six patients. A panel of 23 MODY genes was screened. Patients with BLK</e...

Background: Anti-Müllerian hormone (AMH) and inhibin B (INHB) are two hormones investigated as markers of ovarian reserve in female. serum AMH and INHB levels change through the progression of puberty, and might be markers for identifying pubertal progression rate in girls.Objective and hypotheses: To invetigate serum AMH and INHB levels as markers of pubertal progression rate in girls with central precocious puberty (CPP).Met...

Background: Transient generalized glucocorticoid hypersensitivity is a rare disorder characterized by increased tissue sensitivity to glucocorticoids and compensatory hypoactivation of the hypothalamic–pituitary–adrenal (HPA) axis. The condition itself and the molecular mechanisms that underlie its pathophysiology have not been elucidated as yet. Adenovirus 36 has been reported to cause obesity in various animal species.Objective and Hypotheses...

Background: Sea-blue histiocytosis is a morphological finding that can be associated both with acquired conditions of increased cellular turnover and inborn errors of lipid metabolism.Objective and hypotheses: To present a Chinese boy of hypertension and sea-blue histiocytosis secondary to Niemann–Pick disease type B.Methods: Diagnosis was confirmed by the bone marrow aspiration and the specific enzyme assay of leukocytes (def...

Background: Decreased reproductive rates have been reported in men born prematurely. This potentially relates to an impaired Sertoli cell proliferation during the postnatal hypothalamic-pituitary-gonadal activity, which has been suggested to have a role in later reproductive capacity.Objective and hypotheses: To compare the levels of Sertoli cell markers in premature (PT) and full-term (FT) boys in infancy.Method: Serum AMH and inh...

Familial Male-limited Precocious Puberty is a rare form of gonadotropin-independent precocious puberty. It is inherited in an autosomal dominant manner and it is caused by mutation in the LH/chorionic gonadotropin receptor (LHCGR) that promotes the production of cAMP without the hormone ligand, causing increased androgen production that determines the onset of puberty. The prevalence reported is less than 1/ 1 000 000. As there are few cases reported in the literature, informa...

Background: Hypogonadism is one of the most frequent endocrine complication after hematopoietic stem cell transplantation (HSCT). In some patients hypogonadism could be transient, but very often coexists with prematury ovarian failure. Classical methods used in the diagnostics of hypogonadism have limitations for the prognosis of ovarian reserve.Objective: The aim of the study was to assess ovarian reserve in patients after HSCT using ev...

Aim: To uncover a feasible tumor expression prognostic signature and potential therapeutic targets for children with pACT.Methods: Tumor RNAseq from 53 pACT children (70% girls, median age: 1.7yrs) was performed (Illumina). Using a robust, state-of-the-art, differential gene expression analysis pipeline, differentially expressed genes (DEGs: adjusted P<0.05 and |log2 fold-change|>1) were identified (DESeq2...

Background: Nutrition is an important factor to regulate reproductive function. Some studies showed that high fat diet (HFD) may influence to puberty onset and irregular estrous cycles in the female rats. However, underlying regulation mechanism of nutrition on pubertal maturation and reproductive function is not well-known. Kisspeptin and neurokinin B (NKB) are an essential factor for regulation of pubertal development.Objective and hypotheses: In this ...

Background: Polycystic ovary syndrome (PCOS) is one of the most common endocrinopathies, affecting 5–10% of population. Insulin resistance, apolipoprotein B:apolipoprotein A1 ratio, and BMI commonly increases in obese PCOS patients and are among the indicators of the disease. On the other hand, metformin and cinnamon are generally believed to control these.Objective and hypotheses: To compare the effects of cinnamon with those of the metformin on in...