hrp0098t10 | Top 20 Posters | ESPE2024

Phenotypic and genotypic characterization and long-term follow-up of patients with thyroid hormone resistance

Van der Auwera Tessa , Breckpot Jeroen , Unuane David , Nauwynck Elise , Van Crombrugge Paul , Decallonne Brigitte , Rochtus Anne

Background: Resistance to thyroid hormone (RTHβ) is a rare disease caused by an inactivating mutation in the thyroid hormone receptor beta gene (THRB). This condition leads to elevated thyroid hormone levels with non-suppressed TSH levels. The clinical phenotype is highly variable, ranging from asymptomatic to signs of hyperthyroidism and/or hypothyroidism. This study analysed the genotype and phenotype of paediatric and adult patients followed in three B...

hrp0092p3-252 | Thyroid | ESPE2019

An Unusual Presentation of Hypothyridism: Van Wyk-Grumbach Syndrome

Gargouri Imen , Hadjkacem Faten , Safi Wajdi , Ben Othman Wafa , Charfi Nadia , Rekik Nabila , Mnif Mouna , Abid Mohamed

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...

hrp0092p3-330 | Late Breaking Abstracts | ESPE2019

Van-Wyk Grumbach Syndrome Associated with Trisomy 21: A Case Report

Selim Nihad , Bouchair Nadhira

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...

hrp0089mte5.1 | Gonadal function in congenital adrenal hyperplasia (CAH) | ESPE2018

Gonadal Function in Congenital Adrenal Hyperplasia (CAH)

Claahsen - van der Grinten Hedi

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...

hrp0098p3-141 | GH and IGFs | ESPE2024

A rare cause of short stature: ellis-van creveld syndrome

Esme Kocaman Gizem , Ozdemir Nilgun , Tugce Tunca Kucukali Elif , Kayhan Gulsum , Doger Esra , Orhun Camurdan Mahmut , Bideci Aysun

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...

hrp0082p3-d1-937 | Puberty and Neuroendocrinology | ESPE2014

Van Wyk Grumbach Syndrome: Case Report from Georgia

Paghava Irakli

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 ...

hrp0095p2-153 | GH and IGFs | ESPE2022

Avascular necrosis of the hip as a rare complication of growth hormone therapy

van der Linde Annelieke , van Baelen Amber , van Bergen Christiaan

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 ...

hrp0089p2-p269 | Growth &amp; Syndromes P2 | ESPE2018

Case Report: Ellis Van Creveld Syndrome With a Novel Mutation

Sobu Elif , Demirkol Yasemin Kendir , Yılmaz Gulay Can , Ozcora Gul Demet , Yenigurbuz Fatma

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...

hrp0086p2-p965 | Thyroid P2 | ESPE2016

An Unusual form of Precocious Puberty: Van Wyk and Grumbach Syndrome

Anık Ahmet , Avcı Esma Cigdem , Unuvar Tolga

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 ...

hrp0082p2-d2-598 | Thyroid (1) | ESPE2014

An Unusual Presentation of Acquired Hypothyroidism: the Van Wyk–Grumbach Syndrome

Isguven Pinar , Uluc Nefise , Kosecik Mustafa , Karacan Mehmet , Ermis Bahri

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...