ESPE Abstracts

MIRAGE syndrome is characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes and enteropathy. It was established in 2016 as a new syndromic disorder caused by a gain-of-function mutation in the SAMD9 gene, which encodes a protein that suppresses cell proliferation. Due to the poor life prognosis, there are few reports on the long-term survival. Therefore, we herein report the clinical course of a 24-year-old male patient...

Background: Perrault syndrome is a rare autosomal recessive disorder characterised by sensorineural hearing deafness in both sexes and primary ovarian failure in 46, XX karyotype females. HSD17B4, HARS2, LARS2, CLPP and C10orf2, which associated mitochondrial function, are reported as causative genes.Objective and hypotheses: Here we reported on a Japanese patient who identified C10orf2 mutation with the fourth patient in Perrault syndr...

Background: The intelligence prognosis of congenital hypothyroidism (CH) is remarkably improved by early detection and optimal levothyroxine (LT4) treatment. Some groups have reported that initial LT4 overtreatment results in a subsequent decrease of cognitive function. In universal guidelines, an initial dose of 10–15 μg/kg per day of LT4 is recommended. However, there are cases of LT4 overdosing.Obj...

Background: Aromatase excess syndrome (AEXS) is a rare autosomal dominant disorder caused by the overexpression of CYP19A1 at 15q21. Patients with AEXS manifest various clinical features associated with oestrogen excess; gynecomastia, hypogonadotropic hypogonadism, and advanced bone age are the most salient features in this condition.Objective and hypotheses: The primordial treatment of the gynecomastia in patients with AEXS is surgical mastecto...

Background: Information on sex hormone levels in young children is currently lacking, because those levels are generally below the lower limit of quantitation of conventional immunoassay methods. We investigated sex differences in serum levels of sex hormones in relation to upstream hormones and other background factors in young children, using liquid chromatography-tandem mass spectrometry (LC-MS/MS).Methods: This cross-sectional study enrolled 151 chil...