hrp0097p2-158 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

A case of male pseudoermaphroditism (46,XY DSD) in an adolescent with a novel de novo NR5A1 gene variant.

Kostopoulou Eirini , Samkinidou Efstratia , Sertedaki Amalia , Efthymiadou Alexandra , Giannakopoulos Aristeidis , Hyun Seong-In , Lee Hane , Hun Seo Go , Chrysis Dionisios

Introduction-Purpose: In addition to chromosomal abnormalities, a number of genes have been implicated as causes of Disorders of Sexual Development (DSD). The NR5A1 (SF-1) gene expresses a transcription factor that plays a role in steroidogenesis by controlling multiple stages of adrenal and gonadal development, and its mutations have been reported in cases of DSD.Case presentation: A 152/12-year-old teenager ...

hrp0098rfc14.4 | Fetal and Neonatal Endocrinology | ESPE2024

Neurodevelopmental response to nifedipine treatment in an infant with Congenital Hyperinsulinism due to de novo gain-of-function CACNA1D variant.

Pujari Divya , Conlon Alison , Wakeling Emma , Houghton Jayne , Flanagan Sarah , Eldred Carey , Starling Luke , Kaliakatsos Marios , Dastamani Antonia

Introduction: Congenital hyperinsulinism (CHI) is a rare condition often caused by variants in genes that regulate insulin production. Among the 30 genes identified, CACNA1D, which encodes L-type calcium channels in various cells, is a rare cause. Variants in CACNA1D lead to a multisystem disorder characterized by developmental delay, intellectual disability, autism, hypotonia, seizures, primary aldosteronism, CHI, hearing loss, visual issues...

hrp0089p2-p267 | Growth & Syndromes P2 | ESPE2018

Clinical and Molecular Characterization of Eight Chinese Children with Cornelia de Lange Syndrome Using Targeted Next Generation Sequencing

Chang Guoying

Cornelia de Lange Syndrome (CdLS) is a very rare genetic disorder present from birth, but not always diagnosed at birth. It causes a range of physical, cognitive and medical challenges and affects both genders equally. The present study described eight unrelated Chinese children who present with delayed growth and small stature, developmental delay, unusual facial features, limb abnormalities and a wide range of health conditions. Targeted-next generation sequencing using the ...

hrp0082fc12.1 | Obesity | ESPE2014

High-Fat Diet Rapidly Triggers Circadian De-Synchronization of Clock Genes, Neuropeptides and Inflammation Mediators in the Hypothalamus of C57BL Mice

Hernandez-Nuno Francisco , Ruiz-Gayo Mariano , Diaz Francisca , Argente Jesus , Chowen Julie A

Background: Circadian disorganization of feeding behavior evoked by high fat diet (HFD) intake is suggested to be involved in the resulting weight gain and development of associated metabolic alterations and hypothalamic inflammation.Hypothesis: We hypothesized that this circadian alteration might be a consequence of rapid de-synchronization of different gene clusters relevant for metabolic control.Methods: We analyzed the circadia...

hrp0098p2-353 | Late Breaking | ESPE2024

Association between isolated growth hormone deficiency and Jansen de Vries Syndrome: a case report from a Romanian Paediatric Endocrinology Department

Pascu Bogdan , Mocanu Bianca , Taifas Diana

Background: Jansen de Vries Syndrome is a rare autosomal dominant neurodevelopmental condition characterized by delayed psychomotor development, dysmorphic features, behavioural problems and short stature. First described in 2017, the disorder is attributed to pathogenic variants in Exons 5 and 6 of the of the protein phosphatase magnesium-dependent 1D (PPM1D) gene. The syndrome has been identified in 26 countries worldwide so far and it could be associated wi...

hrp0095p1-189 | Thyroid | ESPE2022

Resistance to Thyroid Hormone β in an infant with a novel de novo mutation of the THRB gene

Sertedaki Amalia , Dolianiti Maria , Sakka Sofia , Siahanidou Sultana , Kanaka-Gantenbein Christina

Introduction: Resistance to Thyroid Hormone (RTH) is a clinical syndrome characterized by impaired end-organ responsiveness to Thyroid Hormone (TH). The cardinal features of this syndrome are elevated serum levels of free THs with normal or high TSH, often with goiter and no clear symptoms of thyrotoxicosis. Mutations in the Thyroid Hormone Receptor beta (THRB) gene constitute the most frequent cause of RTH, defined as RTHβ.<p class="abstext"...

hrp0092rfc15.5 | Late Breaking Abstracts | ESPE2019

De novo Missense Mutation in SP7 in a Patient with Cranial Hyperostosis, Long Bone Fragility, and Increased Osteoblast Number

Raimann Adalbert , Lui Julian C , Roschger Paul , Wintergerst Uwe , Klaushofer Klaus , Stelzl Robert , Biedermann Rainer , Laccone Franco , Fratzl-Zelman Nadja , Hojo Hironori , Dong Lijin , Jee Youn Hee , Baron Jeffrey , Haeusler Gabriele

Background: Sp7, also known as Osterix (Osx), is a zinc-finger transcription factor, essential for osteoblast differentiation and bone formation. While bone formation is absent in Osx knockout mice, human loss of function mutations lead to impaired bone formation and cause recessive osteogenesis imperfecta, type XII (OMIM 613849 ).Case: The 5-year-old son of non-consanguineous parents presented with multiple long bone fr...

hrp0092p1-42 | Fat, Metabolism and Obesity | ESPE2019

De-novo and Depot-Specific Androgen Production in Human Adipose Tissue - a Source of Hyperandrogenism in Obese Females

Wagner Isabel Viola , Sahlin Lena , Kulle Alexandra , Klöting Nora , Döbeln Viola , Savchuk Iuliia , Dötsch Jörg , Söder Olle

Background: Obesity in females is often associated with metabolic complications and hyperandrogenism but the role of adipose tissue (AT) in androgen synthesis remains unclear.Aims/Objectives: Employing human subcutaneous and visceral AT and cultured adipocytes, we studied whether AT could be a source of androgens promoting hyperandrogenism in lean and especially in obese females.Methods</st...

hrp0092p3-64 | Diabetes and Insulin | ESPE2019

De Novo Mutation of ABCC8 Gene in a Child with MODY Developed at 25 Months of Age

Lyeon Kim Goo , Heon Kwak Soo , Yu Jeesuk

Introduction: Recently the incidence of type 2 diabetes was explosively increased in children and adolescents. The underlying mechanism of childhood-onset type 2 diabetes mellitus may be different to the adult-onset type 2 diabetes. Therefore, it is useful to conduct genetic study in children with type 2 feature to understand underlying cause of glycemic dysregulation as well as for the management of diabetes mellitus.Case</stron...

hrp0082p1-d1-140 | Growth | ESPE2014

Severe Short Stature and GH Insensitivity Due to a De Novo Heterozygous STAT5B Missense Mutation

Klammt Jurgen , Neumann David , Andrew Shayne F , Drahosova Marcela , Stobbe Heike , Buckham Kyle , Rosenfeld Ron G , Pfaffle Roland , Hwa Vivian

Background: GH insensitivity is caused by disturbances of GH receptor function or inability to transduce the hormone signal. Affected children are severely growth retarded and may also present immune complications when the transducer STAT5B is defective. Only autosomal-recessive STAT5B mutations have been described to date.Clinical case: Two male 14.5 year monozygotic twins presented with heights of 131.5 cm (−5.3 SDS). Bone age of the ind...