ESPE Abstracts

Background: Van Wyk–Grumbach syndrome (VWGS) is characterized by breast development, uterine bleeding and multi-cystic ovaries in the presence of long-lasting primary hypothyroidism.Objective and hypotheses: The pathophysiology of VWGS involves a complex mechanism, which is at least partly mediated by the direct action of TSH and FSH receptors.Method: We present a girl with Down syndrome having typical feature...

Introduction: Van Wyk Grumbach Syndrome (VWGS) is characterized by untreated severe hypothyroidism, isosexual precocious puberty, multiple ovarian cysts and delayed bone age. The disorder is most likely due to complex interactions of the hormonal axis; (1) excess TSH stimulates the FSH-receptor, (2) pituitary enlargement and hyperstimulation, (3) secondary ovarian hyperstimulation. Although it is extremely rare, it is important to recognize before the unnecess...

Background: Van Wyk-Grumbach syndrome (VWGS) is a rare diagnosis that should be suspected in children with signs of peripheral precocious puberty and hypothyroidism. It is characterized by multicystic enlarged ovaries, in the presence of long-term severe hypothyroidism. Treatment of VWGS consists of hormonal replacement with levothyroxine. Usually, ovarian cysts and increased ovarian volume subside within an average of 2 months but can persist up to 12 months after treatment.<...

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...