ESPE Abstracts

Summary Answer: The majority of the expert panel states that ovarian tissue cryopreservation (OTC)should be offered to young females with Turner syndrome (TS)Background: OTC is a valid option to preserve the fertility of young females at risk of iatrogenic premature ovarian insufficiency (POI). Offering OTC to females with a genetic cause of POI seems a logical next step. One of the most common genetic disorders related ...

The aim of this presentation is to give an overview of motor disabilities in girls with Turner syndrome (TS), the impact on daily life and suggestions for treatment.Girls with TS show substantially lower performance in gross and fine motor function tests and motor milestones are achieved relatively late. Moreover, girls with TS frequently encounter problems in specific motor functioning i.e. oral-motor and visual-motor coordination, motor learning and pr...

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...

Congenital adrenal hyperplasia (CAH) is a group of rare congenital disorders of the adrenal cortex due to a defect in one of the enzymes involved in steroid synthesis leading to cortisol deficiency and overproduction of adrenal androgens. In the most severe forms CAH is a life threatening disease due to the risk of Addisonian and salt wasting crisis. In the last 50 years diagnostics and treatment improved significantly. Patients are treated with lifelong replacement of glucoco...

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 ...

Background: Growth hormone therapy can be indicated for children who are born small for gestation age (SGA) (either birth weight or birth height < -2 SDS) without catch-up growth (height < -2.5 SDS) at age 4 years. Growth hormone therapy is considered a safe treatment.Case presentation: A 12-year-old girl was referred to the pediatric endocrinologist for short stature. She was born small for gestational age (birth ...

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...