ESPE Abstracts

Background: A mutation in EIF2S3 (NM_001415; Xp22.11) was previously associated with microcephaly and developmental delay in a single pedigree. EIF2S3 encodes the eukaryotic translation initiation factor 2 subunit 3 (eIF2γ), the largest of three EIF2 subunits. EIF2 initiates protein synthesis by forming a ternary complex with GTP and initiator methionyl-tRNA which then binds to the 40S ribosomal subunit, enabling scanning of mRNA from the 5′ end to...

Background: Turner syndrome (TS) is a genetic disorder caused by X chromosome monosomy (45,X0) or partial absence of the second sex chromosome, with or without mosaicism. An increased frequency of autoimmune diseases and metabolic disorders has been observed in Turner patients.Objective: To compare Turner monosomy to the other X chromosome abnormalities with regards to occurrence of autoimmune diseases and metabolic disorders.Metho...

Background: X linked hypophosphatemic rickets (XLHR; OMIM 307800) is an X linked dominant disorder caused by mutations in the phosphate regulating neutral endopeptidase homolog X linked (PHEX) gene, which is located at Xp22.11.Objective: To clarify the underlying mechanism of a Brazilian family with hypophosphatemic rickets whose clinical manifestations were very broad among members of different generations.<p class=...

Abnormal phenotypes in patients with ring chromosome X can be ascribed to failed or partial X inactivation due to loss of XIST on Xq13. We describe a mother and 1 daughter with the same mosaic karyotype, and another daughter with 45, X. KZ, 12 years old and recently moved from Poland, was investigated for short stature (Ht SDS -2.1), her mother was 142.9 cm, father 176.1cm. Both were healthy and not dysmorphic. Birth weight at 37 weeks was 2.63kg (20th centile Polis...

Objective: We report a case of a 5y3m patient who complained of breast development with "45, X Turner syndrome (TS) and HCG-secreting gonadoblastoma (Gb)" with Y chromosome mosaicism. Aim to understand the diagnosis of TS and improve the diagnosis and treatment of HCG-secreting tumors.Methods: The data of clinical diagnosis and treatment of this patient were summarized, and the literatures were reviewed.<p ...

Mineralization defects and paradoxical mineralizing enthesopathies are hallmarks of X-linked Hypophosphatemia (XLH), a rare skeletal disease caused by inactivating mutations in the PHEX gene (Phosphate-regulating endopeptidase homolog, X-linked). The current medical treatment, which consist in oral phosphorus supplementation and active vitamin D analogues, aimed at counteracting consequences of FGF23 excess and is commonly prescribed from early childhood to the end of...

Background: Obesity is a major feature in several syndromes. In patients with early-onset severe obesity, 7% harbour a single locus mutation.Objective and hypotheses: We report a 3.11 year old male patient with early onset obesity (BMI 29.9 kg/m2 >>P97), ongoing excessive weight gain, autoaggressive behaviour, and delayed speech development. No growth retardation or further dysmorphic signs. Early postnatal feeding difficulties require...

Background: X-linked hypophosphatemic rickets (XLH) is caused by inactivating mutations in the phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX). In this group of patients, data about renal calcifying disorders are scarce.Objective and hypotheses: To determine the prevalence of nephrocalcinosis and nephrolithiasis and their risk factors in XLH patients.Method: 36 patients (15 children a...

Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome (IPEX) is caused by mutations in the gene that encode for the transcription factor FOXP3. IPEX is a rare, often fatal disease. However, several cases present later onset, mild forms or less common clinical manifestations. We report a case who had de novo mutation of FOXP3 causing neonatal diabetes but without other features of IPEX syndrome. An 8 days old male, late preterm at 36 weeks, low birthweight 2200g...

Introduction: The IGSF1 gene deficiency syndrome (IDS) is an X-linked disorder involving hormonal disfunctions. We report a case of Central Hypothyroidism (CH) due to a Xq26.1q26.2 microdeletion including the IGSF1 gene.Case: this boy was referred to our clinic for thyroid dysfunction. He was born at term by caesarean section due to maternal uterine myoma. Pregnancy was normal, parents were non consangu...