ESPE Abstracts

Introduction: Patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) have specific plasma and urinary steroid patterns, with 11-oxygenatedC19 steroids established as key adrenal-specific androgens. Monitoring glucocorticoid (GC) replacement remains a challenge in the absence of reliable biomarkers.Aim: To reassess the urinary steroid profile of children with CAH in relation to plasma ...

Background: Maturity onset diabetes of the young 2 (MODY2) is phenotypically characterized by elevated fasting and post-prandial blood glucose (BG) levels and no diabetes auto-antibodies. Inheritance is autosomal dominant, and it is caused by variants in the glucokinase (GCK) gene with resetting of the pancreatic glucose sensor to a higher level. It is essential to detect MODY 2 patients as they do not require treatment.Objective...

Objective: The programmed cell death 1 protein (PD1) is a T lymphocyte membrane receptor, which when bound to its ligand PD – L1 inactivates the cytotoxic T lymphocyte, thereby down regulating the immune response. Cancer may upregulate PD – L1 on the cell surface, further downregulating the immune response. Nivolumab, a so called check point inhibitor, is a PD1 antibody, and when bound to PD1 keep the cytotoxic T lymphocyte active. Cytotoxic T lymphocyte activation b...

Background: The optimal timing and appropriate first-line investigations for delayed menarche in an otherwise well teenager with fully developed secondary sexual characteristics is debatable.Case presentation: A 15 year-old female presented with parental concerns of cliteromegaly. Facial acne and primary amenorrhoea were also noted. Pubic hair development started at age 10 years and breast development age 12 years. Family history revealed delayed menarch...

Introduction: McCune Albright Syndrome consists of at least 2 of the following 3 features: (1) polyostotic fibrous dysplasia (PFD), (2) Café au lait macules and (3) autonomous endocrine hyperfunction (eg, gonadotropin-independent precocious puberty). Other endocrine syndromes include hyperthyroidism, acromegaly, and Cushing syndrome.Case: 2 year old girl presented with severe hip pain, inability to walk and progressive deformity of right lower limb....

Study of response to vitamin D replacemet in North Korean refugee children and Korean childrenMyung Hee Chung, MD., Ph.DDaegu Medical Center, Daegu Metropolitan city, KoreaJung Hup Song, MD., Ph.DKyungpook National university hosptal,Occupational Medicine, Public Health Dept.,Daegu, KoreaPurpose: It is well known that obesity and ...

Background: While some guidelines recommend 0.5–1.0 units/kg per day of subcutaneous insulin following resolution of diabetic ketoacidosis (DKA), up to 2 units/kg/day are used in various centers.Objective and hypotheses: To test the hypothesis that higher initial insulin doses would be more efficient during first 48 h of subcutaneous insulin therapy after DKA in cases with new-onset type 1 diabetes.Method: Records of patients ...

Background: overexpression of the oncogene Yes-associated protein 1 (YAP1), a Hippo pathway target, associates with increased cell proliferation in some human cancers. There is not data on adrenocortical tumors (ACT). YAP1 is a potential target of Wnt/β-catenin pathway, which plays an important role in ACTs.Objective and hypotheses: to evaluate the role of YAP1 and its interaction with the Wnt/β-catenin pathway in ACT.Met...

We present the case of a now 11 years old girl with the ultra-rare severe insulin resistance Rabson-Mendenhall syndrome due to the previously undescribed compound heterozygous mutations exon 16: c.2986A>G (Paternal) and intron 9: c.2029+1G>T (maternal) of the insulin receptor gene. The phenotypic findings were composed of dystrophy (birth weight 1970g, small for gestational age), hyperglycemia (up to 400mg/dl), severe acanthosis nigricans and mild cardiac septal hyperpla...

Context: Pubertal timing in boys is associated with body mass index (BMI). Studies consistently report an inverse correlation of BMI and pubertal timing within the normal BMI range. However, observations in obese boys are conflicting with different studies reporting either early or delayed pubertal onset in obese boys.Objectives: We aimed to assess the association of clinically assessed initial milestones of male puberty...