ESPE Abstracts

Background: Ttf1−/− mice had complete absence of follicular and parafollicular cells, agenesis of lung parenchyma, ventral forebrain, and pituitary. Congenital hypothyroidism (CH) patients with chromosomal deletions encompassing the TTF1 locus and point mutations in the TTF1 gene confirmed its implication in the phenotype: CH with a thyroid gland in place, associated with respiratory distress syndro...

Congenital hypothyroidism (CH) is a partial or complete loss of function of the thyroid gland resulting in absent or decreased synthesis and secretion of thyroid hormones affecting infants since birth. Mutations of the hTPO gene are associated with autosomal recessive forms of CH. Based on our TSH screening results, the number of children with eutopic primary CH is increasing. Molecular biology techniques can identify the CH genetic cause after selection based on family histor...

Of the several genetic defects responsible for thyroid dyshormonogenesis, mutations in TPO gene are the most prevalent causes of inherited defects in CH. Prevalent mutations are in exons 8-11 (catalytic site).Case presentation: Girl, born at 16d after term, before the introduction of the neonatal screening, with asphyxia, BL 55 cm, BW 4 kg. Because of insufficient weight gain, feeding difficulties, prolonged jaundice she was referred to a pediatric endoc...

Background: Of the several genetic defects responsible for thyroid dyshormonogenesis, mutations in TPO gene are the most prevalent causes of inherited defects in CH. Prevalent mutations are in exons 8–11 (catalytic site).Case presentation: Girl, born at term (s.c) picked up by TSH screening and start of LT4 treatment at d14 with 14 μg/kg per day (table 1), clinical signs: no goiter, hypotonia, dry skin, posterior fontanel >5 mm, ...

In 2018, the National Library of Medicine (PubMed) included 132 publications in the artificial pancreas (AP) field, and in the first 6 months of 2019, new 80 papers were published. This continues a trend of over 100 scientific publications per year since 2015 and confirms the growing prominence of the AP for the treatment of diabetes. This presentation recounts briefly the technologies enabling the AP, including continuous glucose monitoring (CGM) and automated control algorit...

Introduction: Deficiency of 17β-hydroxysteroid dehydrogenase 3 (17β-HSD3) enzyme encoded by HSD17B3 is a rare cause of disorders of sex development (DSD). The phenotype associated with 17β-HSD3 deficiency in 46, XY individuals is variable, ranging from predominantly male external genitalia with micropenis and hypospadias to completely female external genitalia. The diagnosis and management of this enzymatic defect is very challenging.<p class="abste...

Introduction: There are few longitudinal male cohort studies with serial assessments of growth and puberty.Objective: To describe the design and implementation of a longitudinal cohort study of Russian boys evaluated annually for growth, development and puberty.Design/methods: We assembled a multi-disciplinary team of U.S. and Russian researchers to design and conduct a longitudinal boys’ cohort study in Chapaevsk, Russia with...

Background: We are not aware of other longitudinal cohort studies of boys with annual assessments of pubertal development and long term follow-up to adulthood to evaluate semen quality.Objective: To describe semen quality and investigate its predictors in a longitudinal cohort study of Russian boys followed from prepuberty until adulthood.Design and methods: From 2003 to 2005, 516 prepubertal 8–9-year-old boys were enrolled (8...

Background: We are not aware of other longitudinal cohort studies of boys with prepubertal assessment of exposure to endocrine-disrupting chemicals (EDCs) and annual long term follow-up of growth and puberty to evaluate semen quality.Objective: To describe semen quality and explore associations of prepubertal serum concentrations of organochlorine compounds and pubertal measures with semen parameters in an ongoing longitudinal cohort study of Russian boy...

Background: Mutations in the gene HSD17B3 encoding the 17-beta hydroxysteroid dehydrogenase 3 enzyme cause testosterone insufficiency leading to XY DSD. In this study the clinical characteristics and molecular etiology of 3 new severe XY DSD cases from consanguineous families are elucidated.Clinical report: Three female patients (2 sisters and a single unrelated female) presented at ages 0.1, 8 and 0.7 years with ambiguo...