ESPE Abstracts

Background: Primary ovarian insufficiency (POI) manifests with delayed puberty, primary amenorrhea, and elevated levels of gonadotropins (LH, FSH). A variability in genetic factors in the origin of POI has been reported so far. Here we are reporting a case of POI with non-immune diabetes mellitus and mild intellectual disability suspected to have Woodhouse-Sakati Syndrome.Case presentation: A 14 year and 4 months old ado...

Severe hypercalcemia with total serum calcium concentrations above 15 mg/dL is a serious nonspecific life-threatening emerging disorder. Hypercalcemia usually results in nonspecific classic gastrointestinal and skeletal symptoms as anorexia, nausea, weakness, polyuria, constipation and bone pain. It can be associated with metabolic, nutritional, inflammatory, genetic or malignant disorders, or can be drug-induced. Malignancy related hypercalcemia develops more aggressively and...

Background: Woodhouse-Sakati syndrome (WSS) is an extremely rare autosomal recessive multisystem disease. Ectodermal system findings, such as alopecia and changes in facial skin, endocrinological problems including hypogonadism, hypothyroidism, diabetes mellitus (DM), and decreased levels of insulin-like growth factor I (IGF-I), neurological disorders such as hearing loss and progressive extrapyramidal involvement are the components of this syndrome. The syndr...