ESPE Abstracts

Introduction: Wolfram syndrome (WS) is a rare progressive neurodegenerative disease that shows autosomal recessive inheritance characterized by diabetes insipidus, diabetes mellitus (DM), optic nerve atrophy and deafness. WFS1 gene encoding a protein, wolframin, which is essential to the function of the endoplasmic reticulum, is identified as main causative gene of the disease. We report here a sibling case suspected WS with insulin-dependent DM and optic atrophy in early chil...

Background: Hashimoto thyroiditis (HT) is characterized by autoimmune-mediated destruction of the thyroid gland. Ca metabolism disturbance due to hypoparathyroidism among HT patients remains to be clarified.Objective: To clarify the relationship between HT and primary hypoparathyroidism.Patients and Methods: Serum levels of Ca, albumin, and whole PTH (wPTH, ECLIA) were measured in ...

Background: Adrenal hypoplasia congenita (AHC) is a rare disorder with an estimated frequency of 1 case per 12,500 live births. AHC causes 46,XY disorders in sex development (DSD) due to adrenal androgen deficiency.Objective: Case report ona male AHC patient with no external genitalia abnormalities.Case report: The baby was born at 37 weeks'gestation with a height of 46.5 cm (-...

Background: While hemizygous NR0B1 (DAX1) mutations usually lead to adrenal crisis during infancy or early childhood, p.Gln37*, p.Trp39*, and some other mutations result in late-onset or latent adrenal insufficiency. A small percentage of boys with NR0B1 mutations develops precocious puberty in addition to adrenal insufficiency.Objective and hypotheses: To report a boy with an NR0B1 mutation who exhibited central precocious puberty without adren...

Background: Septo-optic dysplasia (SOD) is a rare disorder characterized by optic nerve hypoplasia, anterior midline abnormality and pituitary hormone deficiency. Mutations of several genes are known to cause SOD related condition, such as HESX1, SOX2, SOX3, and OTX2, but mutations of WDR11 has not been reported in SOD.Objective: Reporting the first SOD patient identified a mutation in WDR11.<p cl...