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 ...

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...

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: The syndrome consisting of primary hypothyroidism, precocious puberty, and massive ovarian cysts was termed Van Wyk and Grumbach syndrome (VWGS) in 1960. Chronic lymphocytic thyroiditis is the more common cause of hypothyroidism in children. In patients with severe longstanding hypothyroidism, the sella turcica may be enlarged due to thyrotrope hyperplasia. Puberty tends to be delayed in hypothyroid children in proportion to the retardation in the bone age, althoug...

Background: IGF1 is mainly sequestered in a 150 kDa ternary complex with IGFBP3 and the acid-labile subunit (ALS). Dissociation of IGF1 from the ternary complex is in part regulated by proteolysis of IGFBP3, which reduces its affinity for IGF1. Short children born SGA have lower IGF1 and IGFBP3 levels compared to healthy peers.Objective and hypotheses: To determine complex formation in healthy normal statured children, and assess variables influencing co...

Background: Children with Prader–Willi syndrome (PWS) attain high serum immunoreactive IGF1 levels during standard dose GH treatment, which leads to concern, but lowering the dose, deteriorates their body composition.Objective and hypotheses: To evaluate serum IGF1, IGFBP3 and acid-labile subunit (ALS) levels, complex formation and IGF-bioactivity in GH-treated PWS children. We hypothesized that GH-treated children with PWS have a normal IGF-bioacti...

Childhood obesity is a chronic disease with detrimental effects on health and wellbeing. Treatment was traditionally focused on reducing caloric intake and increasing energy expenditure. However, considering the global increase in prevalence in obesity, especially in the paediatric age range, this approach is insufficient and transition to new initiatives is needed. Obesity is a complex disease resulting from the interaction of multiple underlying factors, including personal c...