ESPE Abstracts

We studied anthropometric measures (z scores) from birth to 2 years in 115 infants who were born with birth weight <2.5 kg but > 1.5 kg. They were divided into two groups based on Fenton's preterm growth standards at birth. Group 1 (AGA) with weight z score (WAZ) > -2 (n = 100), and group 2 (SGA) with WAZ < -2 (n = 15). Postnatal growth data were evaluated based on the WHO growth standard without correction for prematurity.<p class="abste...

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 ...

Context: For transgender women undergoing gender-affirming hormone therapy (HT), breast development is an important treatment outcome. Since earlier studies showed small breast volumes in trans women treated with HT, we hypothesized that testosterone exposure during puberty might negatively influence breast development and that early initiation of puberty suppression (PS) might have a positive effect on breast development.Aim:</s...

Introduction: Pubertal onset is signaled by thelarche (in girls) and gonadarche (in boys) and indicates the beginning of the hypothalamic-pituitary-gonadal axis activity. Thus, the onset of pubic hair development usually coincides with adrenarche. Girls worldwide are experiencing earlier puberty, but it is uncertain if this trend affects boys, or if it applies to children with type 1 diabetes (T1D).Aim: The aim of this s...

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: Prader–Willi syndrome (PWS) is caused by absence of expression of imprinted genes on the paternal chromosome 15 (15q11.2–q13) due to a paternal deletion, maternal uniparental disomy 15 and rarely an imprinting defect. The clinical signs of PWS are hypotonia, muscle weakness, excessive eating, morbid obesity, delayed global development, hypogonadism, and short stature. Marfan syndrome is caused by mutations in the FBN1 gene, located on chromosome ...

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...