ESPE Abstracts

Background: There is a rise in overweight and obesity among children and adolescents with type 1 diabetes (T1D) in parallel with a rise in the metabolic syndrome (MS) among children and adolescents in general.Objective: The aim of the study was to describe the prevalence and characteristics of the MS in children and adolescents with T1D compared to their healthy counterparts.Design and Sett...

Introduction: Pallister Hall Syndrome (PHS) is a rare autosomal dominant disorder clinically diagnosed by hypothalamic hamartoma, mesoaxial or postaxial polydactyly, and can have several endocrine abnormalities associated with.Case: We report a case of a 7 year old boy presented with precocious puberty and short stature. He was the youngest of 11 siblings, who used to have laughing spells and global developmental delay till four years of age. He had an M...

Background: Pallister-Hall syndrome (PHS) is a rare autosomal dominant disorder characterized by a complex of different abnormalities (polydactyly, bifid epiglottis, hypothalamic hamartoma, imperforate anus). Syndrome is cuased by mutations in the GLI3 gene. PHS is associated with hypopituitarism, early or precocious puberty.Objective: to demonstrate a patient with PHS treated with growth hormone (GH) and gonadotropin re...

Introduction: The association of juvenile hypothyroidism, precocious puberty and ovarian enlargement is known as Van Wyk and Grumbach syndrome (VWGS). This diagnosis is considered on the basis of imaging findings and thyroid function analysis.Case report: Herein we report a case of 9 years old girl was referred to the endocrinology department with a suspicion of precocious puberty after having progressive breast enlargem...

Introduction: Van-Wyk Grumbach syndrome (VWGS) described in 1960 associate Primary hypothyroidism to early puberty, polycystic ovaries and pituitary adenoma with or without hyperprolactinemia. It is a very rare cause of precocious puberty, which the etiopathogenis is not yet very clear.Observation: We report the case of an 8 year old girl known for trisomy 21, she presented a Primary hypothyroidism treated initially with...

Introduction: Pallister-Hall syndrome (PHS) is a rare disease with autosomal dominant pattern of inheritance caused by CHD7 gene mutation and characterized by epiglottis malformation, polydactyly or oligodactyly, hypothalamic hamartoma and visceral abnormalities. Central precocious puberty is the most common endocrine abnormality detected in PHS. Regardless isolated growth hormone deficiency, pan hypopituitarism and genitourinary malformation are reported in P...

Introduction: Central precocious puberty (CPP) at a very early age is usually caused by an organic lesion. The most common organic cause of CCP is the hypothalamic hamartoma (HH), which, associated with polysyndactyly, cleft palate and gelastic crises, clinically suggests the diagnosis of Pallister Hall Syndrome.Case: Infant 3-month-old woman with no family history. Polydactyly in hands and feet is evident from the second trimester of pregnancy. Born at ...

Background: Association of hypothyroidism, isosexual precocious puberty and macrogonadism was first described by Van Wyk Grumbach in 1960. Van Wyk Grumbach syndrome (VWGS) was reported predominantly in females, precocious puberty and clinical picture of hypothyroidism being the clinical hallmarks.Objective and hypotheses: Publishing additional data on clinical and hormonal spectrum of VWGS, providing for better understanding of its pathology and primary ...

Introduction: Ellis Van Creveld syndrome (EVC) is a rare condition which is characterized with disproportionate short stature, postaxial polydactyly, and dysplastic nails and teeth. It is a rare autosomal recessive disorder due to mutations of EVC 1 and 2 genes located on chromosome 4p16. EVC syndrome is a chondroectodermal dysplasia. Congenital heart defects; especially atrial septal defect and single atrium occurs in 60% of affected individuals. Here we report a 5 year-old f...

Introduction: The association of precocious puberty and/or polycystic ovaries, delayed bone age and hypothyroidism is known as the Van Wyk and Grumbach syndrome (VWGS). Clinically this syndrome is a diagnostic challenge because hypothyroidism usually leads to pubertal and growth delay, whereas in case of VWGS hypothyroidism it leads to growth delay and precocious puberty. We report a boy with long-standing, untreated hypothyroidism who presented with precocious puberty.<p ...