hrp0082p3-d1-671 | Bone | ESPE2014

A Challenging Diagnosis of Pseudohypoparathyroidism Type 1a and Practical Management: a Case Report

Grace M L , O'Riordan S , O'Connell S M , Bogue C , Joyce C , Allgrove J

Background: PHP is a rare heterogeneous genetic disorder causing parathyroid hormone (PTH) resistance. This condition is caused by deficiency of the α subunit of the protein Gs, encoded by GNAS gene. Clinical classification is based on presence or absence of Albright hereditary osteodystrophy (AHO) and multiple or single hormone resistance, to PHP1a/1c and PHP1b respectively.Objective: To describe the clinical and practical management of a case of P...

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 ...

hrp0095p2-261 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

VSD genetic diagnosis exploiting single-cell expression data and deep learning

von der Decken Isabel , Azimi Hamid , Lauber-Biason Anna

The majority of patients with Variations of Sex Development (VSD) lack a genetic diagnosis. Patients that are born with atypical chromosomal, gonadal, or phenotypical sex, present a wide spectrum of phenotypes that are often associated with ambiguous genitalia, infertility as well as increased susceptibility to testicular or ovarian cancer. Many different genetic causes of VSD have been reported [2], but for more than 50% [3] of all VSD patients, the molecular cause of their c...

hrp0086rfc14.8 | Growth : Mechanisms | ESPE2016

ACAN Mutations in Short Children Born SGA; Growth Response During GH Treatment with Additional GnRHa, and a Proposed Clinical Scoring System

van der Steen Manouk , Hokken-Koelega Anita C.S.

Background: In children born SGA with persistent short stature, growth hormone (GH) treatment is an approved therapy for increasing adult height (AH). Some SGA children have an advanced bone age (BA) during GH. Heterozygous mutations in the ACAN-gene have been described in children with idiopathic short stature and advanced BA.Objective and hypotheses: To assess growth during GH treatment with additional GnRHa treatment, in children with ACAN-gene mutati...

hrp0082p2-d1-419 | Growth Hormone | ESPE2014

Pubertal Development During GH Treatment with or without Additional GnRH Analogue Treatment in Short Children Born Small for Gestational Age

van der Steen M , Lem A J , Hokken-Koelega A C S

Background: GH treatment is effective in improving adult height (AH) in short children born Small for Gestational Age. If SGA children are short at the start of puberty, they could benefit from combined GH/GnRH Analogue (GnRHa) treatment.Objective and hypotheses: To determine the timing and progression of pubertal development in short SGA children, comparing GH treatment with combined GH/GnRHa treatment.Method: For the present stud...

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 ...

hrp0095lb16 | Late Breaking | ESPE2022

Glucose variability in 6–12-month-old healthy infants

Hauschild Michael , Monnard Cathriona , L. Eldridge Alison , Hansen Erik , A. Dwyer Andrew , Rytz Andreas , Darimont Christian

Background: Continuous glucose monitoring (CGM) devices are novel tools to measure the impact of dietary intake on glucose rhythms/metabolism in children. There is a significant gap in the literature on glycemic response in healthy, term infants and young children up to 2 years of age.Objective: To investigate glucose excursions in response to infant feeding, using CGM in healthy 6–12-month-old infants.<p class...

hrp0095fc10.4 | GH and IGFs | ESPE2022

Cerebral white matter hyperintensities in young adults born small for gestational age treated with growth hormone during childhood in comparison with untreated controls

Dorrepaal Demi , Goedegebuure Wesley , Bos Daniel , van der Lugt Aad , van der Steen Manouk , Hokken-Koelega Anita

Background: The French population of the SAGhE study showed an increased morbidity and mortality due to cerebrovascular disease in growth hormone (GH) treated subjects compared to the general population. Cerebrovascular health can be assessed using neuroimaging markers on MRI. One of the markers is white matter hyperintensity (WMH).Objective: To assess cerebrovascular health by scoring WMH on MRI in young adults born sma...

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...

hrp0084p2-366 | Fat | ESPE2015

Homozygous Mutation in FBN1 Gene In-Patient with Prader–Willi Syndrome: Variant Marfan Syndrome?

van den Boom-Rijk Yvonne , Kempers Marlies , van der Sanden Ria Nijhuis , van Alfen-van der Velden Janielle

Background: Prader–Willi syndrome (PWS) is caused by absence of expression of imprinted genes on the paternal chromosome 15 (15q11.2–q13) due to a paternal deletion, maternal uniparental disomy 15 and rarely an imprinting defect. The clinical signs of PWS are hypotonia, muscle weakness, excessive eating, morbid obesity, delayed global development, hypogonadism, and short stature. Marfan syndrome is caused by mutations in the FBN1 gene, located on chromosome ...