ESPE Abstracts

Prader-Willi syndrome (PWS) is a rare, neurodevelopmental, genetic disorder in adults characterized by muscular hypotonia, a different body composition with more body fat than muscle mass, hyperphagia, behavioral challenges and cognitive dysfunction. Endocrine deficiencies, including growth hormone (GH) deficiency, are common. In many countries GH is approved for treatment of children with genetically confirmed PWS, whereas treatment of adolescents and adults is only approved ...

Turner syndrome (TS) affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating a multidisciplinary approach to care. Numerous important advances have been noted during recent years. These advances cover all specialty fields involved in the care of girls and women with TS. This new international guideline is based on an international effort with emphasis on 1) diagnostic and genetic issues, 2) growth and development during child...

Background: Type 2 diabetes mellitus (T2DM) is a chronic and disabling disease affecting increasing numbers of adolescents. Conventional medical therapy presents unique challenges and seldom stalls progression.Objective and hypotheses: The objective of this presentation is to discuss the findings of contemporary, controlled, and prospective trials of surgical therapy for adult T2DM, which demonstrate dramatic early glycemic control, improvement in cardio...

Turner syndrome is a condition in females missing a sex chromosome (45,X) or parts of the second sex chromosome. It is considered a rare condition and associated with a range of characteristics, such as short stature, ovarian dysgenesis, delayed puberty and infertility, congenital malformations of the heart, endocrine disorders, including a range of autoimmune conditions and type 2 diabetes. Morbidity and mortality is clearly increased compared with the background population a...

Achondroplasia (ACH) is the most common human skeletal dysplasia caused by gain -of-function mutation in the fibroblast growth factor receptor gene (FGFR) 3-encoding protein. Vosoritide, an analog of C-type natriuretic peptide (CNP), is currently the sole medication approved for ACH treatment. Vosoritide can only be administered by daily injection, leaving room for improvement. Infigratinib, a pan-FGFR1/2/3 inhibitor, offers a potential oral treatment alternative and is curren...

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...

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....

Background: While the relationship between subclinical hypothyroidism and major depressive disorder (MDD) has been studied in adults in cross-sectional and prospective population-based studies, this has not yet been done in adolescents. However, since thyroid function and MDD risk are subjected to maturational processes and ramifications of illness duration over the life span, these findings may not readily transfer to adolescents.<stron...

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...