ESPE Abstracts

Background: 46,XY DSD occurs as a result of testicular developmental disorders, defect in androgen synthesis or action. Nowadays, the diagnosis of DSD is quite costly and it takes a considerable amount of time due to lengthy hormonal and genetic analysis.Objective and hypotheses: The use of targeted next-generation sequencing of all known genes associated with 46 XY DSD for a fast molecular genetic diagnosis in patients in whom underlying defect of DSD w...

Introduction: Steroidogenic factor-1 (SF1/NR5A1) is a nuclear receptor, which regulates genes that have functions in the development of adrenal glands and gonads, reproduction, and other metabolic functions.Case presentation: A 20-day-old infant was admitted due to ambiguous genitalia. Physical examination revealed a 2×1 cm phallus, bifid scrotum, and hypospadias. Both gonads were palpable in the inguinal canal. Serum levels of adrenal androgens (17...

Background: Androgen insensitivity syndrome is the most common cause of 46,XY disorders of sex development. This condition is inherited in an x-linked recessive pattern and the most common causes are inactivating mutations in the androgen receptor (AR) gene.Objective and hypotheses: In this study, we report a novel AR gene mutation in an adolescent patient presenting with primary amenorrhea.Method: A 16-year-old p...

Background: Partial androgen insensitivity syndrome (PAIS) typically presents with micropenis, penoscrotal hypospadias, bifid scrotum with descending or undescending testes and gynecomastia. It is x-linked recessive disease resulting from mutations in androgen receptor (AR) gene.Objective and hypothesis: To present clinical characteristics of a novel mutation in the AR gene in an adolescent boy with PAIS who presented with gynecomastia ...

Background: Persistent Mullerian duct syndrome is the result of either anti-Mullerian hormone (AMH) deficiency or AMH receptor resistance. While the external genital structure is that of a normal virilized male, fallopian tubes and a uterus are observed in the internal genital structure. We present a case referred to our clinic because of female internal genital structure at laparoscopy during a surgical procedure performed due to undescended testes.Obje...

Background: Turner syndrome (TS) is associated with increased arterial stiffness. To date, factors associated with the ontogeny of Turner arteriopathy remain unclear.Objective and hypotheses: To assess the associations of vascular biomarkers and the somatotrophic axis with arterial stiffness indices, and left heart size, in normotensive ‘dipper’ TS.Method: Sixty-one patients with uncomplicated normotentensive &#1...

Background: Type 1 diabetes mellitus is characterized by presence of several organ specific autoantibodies. Anti-cyclic citrullinated peptide (anti-CCP) antibody is a promising marker of rheumatoid arthritis (RA) which is known to coincide with autoimmune diabetes. Presence of these antibodies was not investigated in children with type 1 diabetes.Objective and hypotheses: To evaluate presence of anti-CCP antibodies in children with type 1 diabetes compar...

Aim: Acrodysostosis is a rare genetic syndrome characterized by small hands and feet with short, stubby fingers and toes, cone shaped epiphyses, broad nasal root, various abnormalities of mandible, skull, and vertebra, short stature, and mental retardation. Because of the hormone resistance that would accompany, acrodysostosis can be confused with pseudohypoparathyroidism. Mutations of PRKAR1A and PDE4D are reported to be responsible for the disease in less t...

Introduction: Family history is observed in approximately 10% of the cases with type 1 diabetes mellitus (T1DM). The most important gene that determines susceptibility is the human leukocyte antigen complex (HLA) on chromosome 6. In HLA genes; specific combinations of alleles at DR3, DR4, DRB1, DQA1 and DQB1 locus either predispose or protective for T1DM. In this study, we aimed to investigate the molecular genetic etiology by whole exome sequence (WES) analys...

Introduction: Aromatase deficiency leading to virilization in mother and female fetuses during pregnancy is a rare disease. It is characterized by impaired estrogen production, increased gonadotropins, and ovarian cysts. Herein, we report a clinical phenotype of the virilized female due to a novel compound heterozygous mutation in CYP19A1.Case report: A 4-month-old girl was referred due to cliteromegaly. Her mother had developed acne, hair loss,...