ESPE Abstracts

Objectives: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder in infancy. The aim of this study was to screen for reported gene mutations among CH patients in our hospital and to illustrate a genetic mutation spectrum of CH in China.Methods: We designed a gene panel consisting of more than 20 relevant genes including TSHR and DUOX2. Blood samples were collected from 60 CH patients and their parents in Children’s Hospital ...

Resistance to thyroid hormone (RTH) is a rare genetic disease caused by reduced tissue sensitivity to thyroid hormone. The hallmark of RTH is elevated serum levels of thyroid hormone with unsuppressed thyrotropin (TSH). The most common form of RTH results from minor defects in the ligand-binding domain of the TRb gene, resulting in impaired T3-induced transcriptional activity. This study aimed to characterize clinical and genetic features of THD suspected cases in our clinic. ...

Background: Mutations in genes involved in insulin secretion or regulation of β cell identity cause both persistent neonatal diabetes (PND) and hyperinsulinemic hypoglycemia of infancy (HHI) pinpointing shared pathogenic mechanisms. KCNQ1 encodes a potassium channel protein, Kv7.1, which is a voltage-gated potassium channel expressed in cardiac tissue, pancreas, inner ear neurons, and other tissues. Variants in or nearby to KCNQ1 were linked t...

Background: Congenital hypothyroidism is primarily due to thyroid dysgenesis (TD). The genes implicated in TD, account for a small number of patients with monogenic forms, less than 5%. Borealin is a major component of the Chromosomal Passenger Complex, an essential regulator of mitosis.Objective and hypotheses: To understand the role of Borealin mutations found in patients with TD.Method: We performed whole exome sequencing (WES) ...

Background: Generalized lymphatic anomaly (GLA) is a rare congenital disorder characterized by aggressive proliferation of dilated lymphatic vessels. The etiology of GLA is poorly understood.Objective and hypotheses: To identify the underlying genetic basis for GLA.Method: Exome sequencing (ES) was performed in two families, including a multigenerational family (family-1) with six affected members. RNA-seq was performed on skin bio...

Background: Primary ovarian failure (POF) is a major cause of female infertility. POF is characterized by amenorrhea, hypo-estrogenism and elevated gonadotrophin levels. In POF disorder, several genetic alterations have been described, however in most of the patients the etiology of this disorder remains unknown.Objective and hypotheses: To identify new genes implicated in the development of POF using Next-Generation Sequencing (NGS).<p class="abstex...

Background: Single nucleotide polymorphisms (SNPs) within the promotor and 5’UTR of the transcriptional factor, ZBTB38, are associated with adult height and idiopathic short stature although their precise auxological effects have not previously been described. In addition, the molecular mechanisms through which ZBTB38 affects growth have not been fully elucidated but potential downstream mediators are suggested to include MCM10 or IGF2.Objectives: <...

Background: The majority of children with short stature are classified as idiopathic short stature. Whole exome sequencing can help identify genetic causes of short stature.Methods: We recruited 10 children with short stature of unknown etiology. We conducted whole exome sequencing of the patients and their family members. We used an analysis pipeline to identify rare nonsynonymous genetic variants that might cause the short stature. All rare allelic var...

Background: 46,XX DSD (Disorder of Sex Development) includes individuals with ovotestes (ovotesticular DSD (OTDSD)) or testes (testicular DSD (TDSD)). Most individuals with 46,XX TDSD carry the SRY gene. Other known causes of TDSD/OTDSD include chromosomal rearrangements involving SOX9 or SOX3 and mutations of WNT4 and a WNT regulator, R-SPONDIN 1. However, our understanding of the molecular causes of TDSD and OTDSD remain incomplete.<p ...

Background: The inheritable component of familial Papillary Thyroid Cancer (fPTC) was recently attributed to monogenic defects in a reduced number of genes including DICER1. DICER1 codes for a ribonuclease of the RNaseIII family essential for the biogenesis of microRNAs.Objective and hypotheses: We aimed to identify germline and/or somatic mutations in DICER1 in a familial pedigree with PTC, multinodular goiter (MNG) and other ...