ESPE Abstracts

Background: Lately, pediatric gender services have been confronted with a steep and unexplained increase of transgender and gender diverse (TGD) youngsters seeking psychological support and eventually medical care. We report on the evolution of referrals to our clinic for first psychological assessment and the rates of medical transition.Methods: The whole cohort of youngsters undergoing a first psychological intake betw...

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: Ellis-Van Creveld syndrome is a syndrome progressing with postaxial polydactyly, short extremities, short height, dystrophic and/or hypoplastic nails, dental and oral anomalies, congenital heart disease and radiological abnormalities. Variations in several genes like EVC, EVC2, DYNC2H1, DYNC2LI1, GLI, SMO, PRKACA and PRKACB are considered responsible for the etiology of the syndrome.Case: An 11 year and 5 m...

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 ...

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.<...