ESPE Abstracts

Background: Van Wyk Grumbach Syndrome (VWGS) is a rare presentation of juvenile hypothyroidism which manifests in females as chronic autoimmune hypothyroidism, isosexual pseudo-precocious puberty and multicystic ovaries. It uniquely presents with short stature and delayed bone age unlike other causes of precocious puberty. Kocher-Debre-Smeglaine Syndrome (KDSS) is a rare presentation of juvenile hypothyroidism manifesting as calf muscle pseudo-hypertrophy, delayed contraction ...

Background: Van Wyc-Grumbach syndrome is a rare presentation of long standing pre-pubertal hypothyroidism characterized by bilateral multicystic ovaries, vaginal bleeding and delayed skeletal growth in case of female.Case Presentation: we present a clinical course, diagnosis and management of a case of Van Wyc-Grumbach syndrome in a 10-years old Egyptian counselled for recurrent vaginal bleeding and pubertal advancement for age. She was ...

Introduction: Since 1960, enlarged polycystic ovaries associated with hypothyroidism, delayed bone age and precocious puberty are recognized as Van Wyk and Grumbach syndrome. Although it is rare entity, it should be considered in differential diagnosis of the enlarged polycystic ovaries.Case: An eleven-year-old girl was presented with sudden onset of abdominal pain and vomiting. A large mass with multiple cysts was seen ...

Introduction: Regenerating endogenous pancreatic β-cells is a potentially curative yet currently elusive strategy for diabetes therapy. Mimicking the microenvironment of the developing pancreas and leveraging vascular signals, critical to pancreatic endocrinogenesis, may promote β-cell regeneration. We aimed to investigate whether recovery from experimental hypovascularization of the endocrine pancreas could trigger mouse ß-cell proliferation.<...

Introduction: CORNELIA DE LANGE Syndrome (CdLS) is a rare syndrome, first described in 1933 by the Dutch pediatrician CORNELIA DE LANGE. This syndrome represents a multi-systemic disorder with physical, cognitive and behavioral characteristics. It is evident in the typical or classical form (craniofacial appearance, short stature and limbs deformities). However, not all individuals with CdLS present with the classic phenotype, as the clinical presentation can ...

Background: The association of primary hypothyroidism and isosexual precocious pseudopuberty in females was first described in 1960 by Van Wyk and Grumbach. The unique elements that lead to the diagnosis are FSH-dominated sexual precocity with non advanced bone age in the presence of hypothyroidism.Objective and methods: Describe an 8.5 years old girl with hypothyroidism due to HT and clinical and hormonal features of Van-Wyk and Grumbach syndrome.<p...

Van Wyk and Grumbach reported the association of untreated chronic hypothyroidism with precious puberty, pituitary enlargement and multicystic ovaries first in 1960. TRH-induced TSH excess causes macropituitary gland and stimulation of the gonadal FSH receptors, which explains the phenotype isosexual precious puberty and multi-cystic ovaries. In the following we report on two patients with this rare syndrome. The first patient is an 11 year old girl from Venezuela, who moved t...

Background: Van Wyk Grumbach (VWG) and Kocher Debre Semelaigne (KDS) syndromes are rare syndromes with clinical manifestation of hypothyroidism associated with precious pseudo puberty and myopathic pseudomuscular hypertrophy. We present two cases that have the characteristic of both VWGS and KDSS syndromes developed in association with a long-term untreated hypothyroidism.Case 1: Seventeen years old girl was referred to our hospital due to menstrual irre...

Background: Ellis van Creveld syndrome (EVC) (chondroectodermal dysplasia) is a rare, multisystem disorder. It probably affects only around 1 in every 150,000 individuals. It is characterized by a long, narrow trunk and shortened arms and legs; extra fingers (postaxial polydactyly), and abnormalities of the oral region and teeth. In infants, non-bony manifestations, particularly congenital heart defects, may be health or life-threatening.Case presentatio...

Background: Human scalp hair is a valuable matrix for determining long-term cortisol concentrations, with wide-spread applicability in clinical care as well as research. However, pediatric reference intervals are lacking.The aim of this study is to establish age-adjusted reference intervals for hair cortisol in children aged 0-18 years and to gain insight into hair-growth velocity in children up to 2 years old.Methods: A...