hrp0098p3-256 | Thyroid | ESPE2024

Van Wyk Grumbach syndrome – an exciting disease with different causes and forms of presentation

Reichardt Susen , Gemulla Gita , Hübner Angela

Van Wyk and Grumbach reported the association of untreated chronic hypothyroidism with precious puberty, pituitary enlargement and multicystic ovaries first in 1960. TRH-induced TSH excess causes macropituitary gland and stimulation of the gonadal FSH receptors, which explains the phenotype isosexual precious puberty and multi-cystic ovaries. In the following we report on two patients with this rare syndrome. The first patient is an 11 year old girl from Venezuela, who moved t...

hrp0092p1-223 | Growth and Syndromes (to include Turner Syndrome) (1) | ESPE2019

Tall Stature and Macrodactyly of the Great Toes Due to a Novel Mutation in the Natriuretic Peptide Receptor-2 Gene

Lauffer Peter , van Duyvenvoorde Hemine , van Haeringen Arie , van der Kaay Danielle

Background: Mutations in the gene encoding the natriuretic peptide receptor-2 gene (NPR2) are responsible for monogenic growth disorders. Loss-of-function variants cause extreme short stature and skeletal dysplasia. Gain-of-function mutations cause tall stature with - in some cases - macrodactyly of the great toes, a Marfanoid habitus, arachnodactyly and scoliosis. We describe a novel gain-of-function mutation in exon 8 of NPR2 in a family wi...

hrp0082p3-d1-936 | Puberty and Neuroendocrinology | ESPE2014

Association of Van Wyk Grumbach and Debre Semelaigne Syndromes in Two Cases with Severe Hypothroidism

Demirel Fatma , Oden Alkim , Tayfun Meltem , Ucakturk Ahmet , Gungor Ali

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...

hrp0084p3-974 | GH & IGF | ESPE2015

Linear Growth in a Child with Ellis Van Creveld Syndrome: Positive Effect of Growth Hormone Therapy

Soliman Ashraf , Alyafei Fawzia

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...

hrp0094p2-483 | Thyroid | ESPE2021

A 9-year-old girl with Van Wyk and Grumbach syndrome: precocious puberty as a rare consequence of hypothyroidism

Osokina Irina

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...

hrp0092p1-92 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

A Rare Case of Pseudoisodicentric X Chromosome in a Patient with Primary Amenorrhoea

Schipper Saskia , Aarts Coranne , van der Linde Annelieke

Background: Pseudoisodicentric X chromosomes with an Xq deletion (46,X,idic(Xq)) are rare. Most cases are mosaic, the other cell line being 45,X. Nonmosaicism is rare. Phenotype is characterized by the resultant of the X deletion. Variations from short to tall stature can occur and premature ovarian failure is a common feature.Case presentation: A 16 year old girl was referred to our clinic with primary amenorrhoea. She ...

hrp0084p2-517 | Pituitary | ESPE2015

Be Aware of Congenital Panhypopituitarism in Children with a Family History of Polydactyly

Hovinga Idske Kremer , Giltay Jacques , van der Kamp Hetty

Background: Congenital panhypopituitarism is associated with a variety of gene mutations. Abnormalities in the Gli2 gene were only recently described to be associated with congenital panhypopituitarism (Franca et al. 2010). Gli2 is a gene that encodes a transcription factor downstream of the Sonic Hedgehog pathway – known to play an important role in morphogenesis during embryology.Objective and hypotheses: Although Gli2 mutations were described to ...

hrp0092p1-46 | Fat, Metabolism and Obesity | ESPE2019

How to Recognize Underlying Somatic Causes of Paediatric Obesity? Performance of the Diagnostic Recommendations of the Endocrine Society Guideline and Suggestions for Improvement

Abawi Ozair , Kleinendorst Lotte , van der Voorn Bibian , Brandsma Annelies , van Rossum Elisabeth , van Haelst Mieke , van den Akker Erica

Background: Underlying causes of obesity are thought to be rare even in specialized paediatric endocrinology clinics. However, evidence is limited. The Endocrine Society (ES) guideline for paediatric obesity makes the following diagnostic recommendations: endocrine evaluation in presence of reduced growth velocity, evaluation of cerebral obesity in presence of CNS injury, re-evaluation of drug choice in patients using antipsychotics. Genetic testing is recomme...

hrp0082fc1.5 | Adrenal | ESPE2014

Antenatal Glucocorticoid Treatment and Polymorphisms in Glucocorticoid and Mineralocorticoid Receptor Genes are Associated with Long-Term Neurodevelopmental Outcomes in Preterm Survivors

van der Voorn Bibian , van der Pal Sylvia , Wit Jan , Meulenbelt Ingrid , Slagboom Eline , Rotteveel Joost , Finken Martijn

Background: Preterm survivors are found to exhibit deficits in several neurodevelopmental domains. It is unknown whether this could be explained by antenatal glucocorticoid treatment.Objective and Hypotheses: We studied whether antenatal glucocorticoid treatment is associated with behaviour and IQ in young adults born preterm. In addition, we studied whether these associations could be modified by the R23K and N363S polymorphisms in the glucocorticoid re...

hrp0097fc1.6 | Adrenals and HPA Axis | ESPE2023

Cardiovascular risk profile in adult patients with congenital adrenal hyperplasia: a cross-sectional study

van der Zwan Y.G. , Schrӧder M. , Stikkelbroeck N.M.M.L. , Reisch N. , Falhammar H. , Roeleveld N. , Claahsen-van der Grinten H.L.

Background: Adults with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD) develop an adverse metabolic and cardiovascular risk profile. Both over- and undertreatment with glucocorticoids are associated with these adverse metabolic effects. There is limited data available of changes in cardiovascular parameters during lifetime.Objective: This study aimed to evaluate unfavorable changes in cardiovascu...