ESPE Abstracts

Introduction: Pathogenic MC4R gene variants result in hyperphagia and early onset obesity, but puberty is not usually affected. A 16-year-old male with repaired Tetralogy of Fallot, anosmia, autism, and anxiety, was referred with delayed puberty. Height was -1.31 SDS, BMI 30.7 kg/m2. He had high-arched palate, normal skin and hair colour, mild hypertelorism, Tanner stage A2P1G1, 5ml testes.Results: Gn...

Infertility affects one in six couples in the UK. Identification of novel factors which are critical to reproductive function could lead to improved therapies for infertility. Kisspeptin has been identified as a key regulator of the reproductive system. Defective kisspeptin signalling causes a failure of reproductive hormone release (hypogonadotrophic hypogonadism) in rodents and man leading to a failure to go through puberty. My group have determined the effects of kisspeptin...

Introduction: Alkaline Phosphatase (ALP) is an enzyme produced mainly by the liver and bones. Several conditions such as vitamin deficiencies or hypothyroidism can impair ALP synthesis and lead to low serum levels. Low levels can also be caused by rarer conditions such as hypophosphatasia. We noticed low levels of ALP in several of our patients with Duchenne Muscular Dystrophy (DMD) and wondered if this could be caused by low bone turnover due to high dose ste...

The association of TIDM and SLE is rather rare, but in the event of occurrence can complicate the course of the other. Genetic predisposition, autoimmunity and viral infections are the main etiopathological factors implicated in the pathogenesis of type 1 diabetes mellitus and an association between TIDM and Celiac disease (CD) has a high incidence. This is probably due the human leukocyte antigen (HLA) DR3- DQ2 and DR4-DQ8 that is common to both the diseases.<p class="abs...

Congenital adrenal hyperplasia (CAH) is a common disorder of steroid production mainly caused by a mutated CYP21A2 gene, causing 21-hydroxylase deficiency (21OHD). CAH due to 21OHD requires lifelong mineralocorticoid (MC) and glucocorticoid (GC) therapy. But, from the location of the enzyme block in the steroid production and increase of adrenocorticotropic hormone (ACTH) which stimulates the melanocortin type 2 receptor (MC2R) in the adrenal, excessive adrenal androgen produc...

Background: Adrenal insufficiency is a potential complication of prolonged exogenous steroid therapy in patients with nephrotic syndrome. Despite its clinical significance, there is limited information on its prevalence and associated risk factors in pediatric populations. This study aims to estimate the prevalence of adrenal insufficiency in children with nephrotic syndrome and identify the associated risk factors.Methods:</stro...

Objective and context: Celiac disease (CD) is a common autoimmune disorder in type 1 diabetes (T1D), ranging from 5–10% in Caucasian population. There is limited data on the prevalence of CD in T1D and its association with HLA-DQ in India. We studied the HLA genotyping in patients of T1DM with CD in India.Design: The study was done in case control design.Patients and measurements: In a cross-sectional study, 146 T1D patients a...

Background: GH deficiency (GHD) is an endocrine condition, caused by problems arising in the pituitary gland that does not produce sufficient quantities of GH. GHD is treated by replacing GH with one daily injections. Recent studies suggested that GH could be involved in regulation of certain stem cell subset potential and function. However, the exact effects of GH therapy on biology of stem cells in paediatric patients were not studied in detail.Methods...

Background: Autoimmune thyroid disease (AITD) is the most common organ-specific autoimmune disorder. Genetic background, environmental and endogenous factors are play important roles in determining the activation of immune cells or the efficacy of the immunoregulatory pathways. Recently emphasizes the immunosuppressive role of B regulatory cells (phenotype CD19+CD24hiCD27+IL-10+, CD19+IL-10+) in regulation of immune respon...

Introduction: Hematopoetic progenitor stem cells (HSCs, CD133+/CD45+) and very small embryonic-like stem cells (VSELs, CD133+/CD45−) can differentiate into specific immune cells. Some studies suggest that levels of HSCs and VSELs change during therapy with growth hormone (GH) or insulin-like growth factor 1 (IGF-1). GH deficiency (GHD), an endocrine disease connected with insufficient production of GH by pituitary gland, is tre...