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hrp0092p1-394 | Pituitary, Neuroendocrinology and Puberty (2) | ESPE2019

Next Generation Sequencing in GnRH Deficient Patients with Congenital Hypogonadotrophic Hypogonadism: Novel Findings in KAL1, SRA1, WDR11, FGFR1, CHD7 and PROP1 Genes

Neocleous Vassos , Fanis Pavlos , Toumba Meropi , Cinarli Feride , Schiza Melpo , Stylianou Charilaos , Tanteles George A , Oulas Anastasios , Spyrou George M , Skordis Nicos , Phylactou Leonidas A

Abstract: Objective: Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disease caused by GnRH deficiency and characterized by absent or incomplete puberty with infertility. The identification of the genetic cause in this group of patients through the use of next generation sequencing (NGS) can assist to the clinical management.Methods: Seven GnRH deficient nonrelated Cypriot probands were ...

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hrp0089p2-p264 | Growth & Syndromes P2 | ESPE2018

Targeted/Exome Sequencing Identified Mutations in 55 Chinese Children Diagnosed with Noonan Syndrome and a Autosomal Recessive form Associated with LZTR1 Variants

Li Xin , Yao Ruen , Chen Yao , Chang Guoying , Ding Yu , Li Juan , Shen Yiping , Wang Xiumin , Wang Jian

Background: Noonan syndrome (NS) is generally considered an autosomal dominant, multisystemic disorder caused by dysregulation of the RAS/mitogen activated protein kinase (MAPK) pathway. The latest research confirmed the existence of a form of Noonan syndrome that is inherited in an autosomal recessive pattern and identify biallelic mutations in LZTR1. In this study, we diagnosed 55 Chinese NS Children via targeted sequencing or whole exome sequencing (TS/WES).<p ...

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hrp0086p1-p197 | Diabetes P1 | ESPE2016

Diagnosis of Non-Autoimmune Paediatric Diabetes by Targeted Next Generation Sequencing (NGS): Findings in Two Families with Rare Mono- and Digenic forms of Diabetes

Poidvin Amelie , Donath Xavier , Saint-Martin Cecile , Loison Sylvie , Carel Jean-Claude , Bellanne-Chantelot Christine , Tubiana-Rufi Nadia

Background: Nearly 10% of paediatric onset diabetes are auto-antibodies negative. Among them monogenic diabetes are frequently under-diagnosed. The major increase in the prevalence of childhood obesity is misleading with a risk of confusion between type 2 diabetes (T2D) and monogenic causes of diabetes.Objective and hypotheses: To report on two informative families with negative auto-antibodies childhood-onset diabetes cases.Method...

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hrp0092p1-194 | Fat, Metabolism and Obesity (1) | ESPE2019

Whole Exome Sequencing to Identify Causative Variants in a Female Patient with Early Onset Obesity and Intellectual Disability: A New Case of Borjeson-Forsman-Lehmann syndrome

Pagliazzi Angelica , Artuso Rosangela , Traficante Giovanna , Giunti Laura , Bosi Emanuele , Provenzano Aldesia , La Barbera Andrea , Guarducci Silvia , Palazzo Viviana , Pantaleo Marilena , Lucherini Barbara , Sani Ilaria , Formicola Daniela , Reho Paolo , Bargiacchi Sara , Dosa Laura , Peluso Francesca , Forzano Giulia , Contrò Gianluca , Di Giovanni Fabiana , Stagi Stefano , Giglio Sabrina

The epidemic spread of obesity in children has triggered the commitment of scientific research, which has allowed us to understand its genetic basis; the different forms of genetic obesity share common clinical aspects, making it difficult to achieve a molecular diagnosis based only on our clinical suspicion. We report a female patient presented with neonatal hypotonia, hyperphagia and early onset excessive weight gain, strabismus and high hypermetropia. Regarding her neurodev...

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hrp0086s2.1 | Genetics and epigenetics of thyroid dysgenesis | ESPE2016

Determination of Autosomal Monoallelic Expression in Thyroid Tissue Assessed by Whole-Exome and Bulk RNA Sequencing: A Role in Thyroid Dysgenesis, Autoimmunity and Cancer

Deladoey Johnny

Background and hypotheses: Congenital hypothyroidism due to thyroid dysgenesis (CHTD) is a disorder with a prevalence of one in 4,000 live births, the cause of which remains unknown. The most common diagnostic category is thyroid ectopy, which occurs in up to 80% of CHTD cases. CHTD is predominantly not inherited and has a high discordance rate (>92%) between monozygotic (MZ) twins. The sporadic nature of CHTD might be explained by somatic events such as autosomal monoalle...

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hrp0086rfc14.3 | Growth : Mechanisms | ESPE2016

Whole Exome Sequencing Identifies a GH1 Gene Mutation Causing Familial Isolated Growth Hormone Deficiency with Normal Peak Growth Hormone Concentrations

Salcedo Catalina Cabrera , Hwa Vivian , Tyzinski Leah , Andrew Melissa , Backeljauw Philippe , Dauber Andrew

Background: Familial isolated growth hormone deficiency (IGHD) type II is autosomal dominantly inherited and caused by splice-site mutations and nucleotide substitutions in the GH1 gene. The missense mutation R183H is a well-described genetic variant that causes familial IGHD type II. Individuals with this mutation have releasable GH stores, but GH secretion is severely reduced resulting in short stature.Objective and hypotheses: This study aimed to repo...

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hrp0092p2-253 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Complexities of Diagnosis in 17-Beta-Hydroxysteroid Dehydrogenase Deficiency and Implementation of Next Generation Sequencing in Guiding Management Decisions – Case Series of Six Patients

Taylor-Miller Tashunka , Barton John S , Burren Christine P , Woodward Mark , Alderson Julie , Crowne Elizabeth C

17-beta-hydroxysteroid dehydrogenase (17-beta-HSD3) deficiency is an autosomal recessive 46XY disorder of sex development (DSD), which results in impaired gonadal androstenedione conversion to testosterone. The phenotype ranges from female to ambiguous genitalia, with wolffian-duct structures and testes. HCG stimulation tests assess testosterone biosynthesis, though biochemical results in confirmed 17-beta-HSD3 deficiency may overlap with gonadal dysgenesis making diagnosis ch...

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hrp0089p2-p209 | GH & IGFs P2 | ESPE2018

A Novel Mutation of Type I Insulin-like Growth Factor Receptor (IGF1R) Gene in a Severe Short Stature Pedigree Identified by Targeted Next-generation Sequencing (NGS)

Yang Yu , Huang Hui , Li Yang , Xie Liling , Chen Ka , Xiong Ting , Wu Xian

Objective: To identify genetic mutations of a pedigree affected by severe short stature in Chinese populations for the first time.Methods: Auxological and endocrinological profiles were measured. Targeted next-generation sequencing (NGS) analyses comprising 277 shorted stature-associated candidate genes and 19 related copy number variation (CNV) regions were used to identify gene mutations in the proband. Three web-based software programs (SIFT, PolyPhen...

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hrp0095p1-120 | Growth and Syndromes | ESPE2022

Mosaic sex chromosomal abnormalities in male individuals with short stature: a new role for non-conventional techniques (whole exome sequencing, genome wide array analysis, SHOX MLPA) in making the genetic diagnosis

Westra D. , Rinne T.K. , Oud M.S. , Ruiterkamp-Versteeg M.H.A. , de Leeuw N. , van der Velden A.A.E.M. , Kempers M.J.E.

The phenotype in male individuals with a mosaic sex chromosomal abnormality is heterogenous, but ambiguous genitalia, delayed puberty, disturbed spermatogenesis, and short stature are frequently seen. Genetic investigation in boys with idiopathic/isolated short stature usually includes SHOX gene analysis (sequencing and copy number detection by MLPA), genome wide array analysis, and/or whole exome sequencing (WES). In the Netherlands, conventional karyotyping is not part of th...

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hrp0086p1-p909 | Thyroid P1 | ESPE2016

Identification of a “Cryptic” De Novo Deletion in NKX2.1 in the Brain-Lung-Thyroid Syndrome using Genomic SNP Arrays

Villafuerte Beatriz , de Benito Daniel Natera , Lacamara Nerea , Garcia Marta , Lumbreras Cesar , de Randamie Rajdee , Nevado Julian , Moreno Jose Carlos

Background: Genetic defects in NKX2.1 (chromosome 14q13) are associated with hypothyroidism, choreo-athetotic movements and respiratory distress, known as the Brain-Lung-Thyroid syndrome.Objective and hypotheses: To identify the genetic basis of a disorder compatible with the NKX2.1 syndrome and extra features outside the typical triad.Patients and methods: 10-year old girl with congenital ...

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ESPE Abstracts

Next Generation Sequencing in GnRH Deficient Patients with Congenital Hypogonadotrophic Hypogonadism: Novel Findings in KAL1, SRA1, WDR11, FGFR1, CHD7 and PROP1 Genes

Targeted/Exome Sequencing Identified Mutations in 55 Chinese Children Diagnosed with Noonan Syndrome and a Autosomal Recessive form Associated with LZTR1 Variants

Diagnosis of Non-Autoimmune Paediatric Diabetes by Targeted Next Generation Sequencing (NGS): Findings in Two Families with Rare Mono- and Digenic forms of Diabetes

Whole Exome Sequencing to Identify Causative Variants in a Female Patient with Early Onset Obesity and Intellectual Disability: A New Case of Borjeson-Forsman-Lehmann syndrome

Determination of Autosomal Monoallelic Expression in Thyroid Tissue Assessed by Whole-Exome and Bulk RNA Sequencing: A Role in Thyroid Dysgenesis, Autoimmunity and Cancer

Whole Exome Sequencing Identifies a GH1 Gene Mutation Causing Familial Isolated Growth Hormone Deficiency with Normal Peak Growth Hormone Concentrations

Complexities of Diagnosis in 17-Beta-Hydroxysteroid Dehydrogenase Deficiency and Implementation of Next Generation Sequencing in Guiding Management Decisions – Case Series of Six Patients

A Novel Mutation of Type I Insulin-like Growth Factor Receptor (IGF1R) Gene in a Severe Short Stature Pedigree Identified by Targeted Next-generation Sequencing (NGS)

Mosaic sex chromosomal abnormalities in male individuals with short stature: a new role for non-conventional techniques (whole exome sequencing, genome wide array analysis, SHOX MLPA) in making the genetic diagnosis

Identification of a “Cryptic” De Novo Deletion in NKX2.1 in the Brain-Lung-Thyroid Syndrome using Genomic SNP Arrays

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