ESPE Abstracts

Background: While GH therapy forms the mainstay of growth promoting treatment for Turner syndrome (TS), adjunctive use of oxandrolone and optimal timing of pubertal induction remain controversial. The previously published interim analysis of this randomised double-blind placebo-controlled trial demonstrated that oxandrolone and pubertal induction at 14y vs 12y significantly increased final height. However, these effects were not additive.Objective: To up...

Background: AHDS is a devastating disease caused by defects in the thyroid hormone (TH) transporter MCT8. Endocrine expression is heralded by systemic hyperthyroidism with elevated serum T3, mildly increased TSH and decreased T4. However, the brain is hypothyroid, causing severe psychomotor retardation. Therapeutic attempts with PTU+levothyroxine or the T3-analogue DITPA could normalize TH derangements but without any neurological improvement. ...

Background: Cis-gender females are known to mount stronger immune responses to invading pathogens or vaccines than cis-gender males. However, this is also associated with increased risk of autoimmunity. Little is known about the immunophenotypes of transgender individuals on gender-affirming hormonal treatment, despite growing evidence that hormones influence the immune system. Via the process of class-switch recombination (CSR), B-cell immunoglobulin isotype ...

Introduction: Statural growth is regulated by multiple genetic, epigenetic and environmental mechanisms. The GH-IGF-1 axis was long believed to be the main linear growth regulator in children until more recent studies showed that the complex regulation of growth plate chondrocytes play an equal role. In order to extend our knowledge about the genes involved in short stature, we studied a unique cohort of children with short stature from consanguineous families...

Background: Spatial navigation is an essential human skill that helps individuals track their changes in position and orientation by integrating self-motion cues. Meta-analyses indicate that males, on average, perform better than females on a number of spatial tasks. Sex steroids, mainly androgens, modulate the remodeling of synapses in the prefrontal cortex and hippocampus, a limbic brain area with critical influence on spatial and contextual memory. Androgen...

Introduction: Very short stature is a common presenting complain that gives rise to numerous investigations. FBN1 heterozygous mutations cause acromelic dysplasia syndromes. The phenotypic spectrum of these growth disorders is broad, ranging from short stature with short extremities, stiff joints, skin thickening with tracheal stenosis and cardiac valvulopathy to nearly isolated short stature. Here, we report on a girl with disproportionate short stat...

Introduction: Premature adrenarche (PA) is usually define as the appearance of clinical signs of androgen action before the age of 8 years in girls and 9 years in boys, associated the serum DHEAS above 40µg/dl.Aims: 1) To characterize a population of prepubertal children with PA regarding birth weight, anthropometry, growth velocity, height difference, bone age, IGF1 and DHEAS. 2) To compare IgF1, bone age, growth v...

Introduction: There seems to be an undoubting, but still puzzling, relationship between obesity and premature adrenarche (PA).Aim: To characterize a population of prepubertal girls with PA and to compare girls with a normal body mass index (BMI) with girls who are overweight or obese, in what regards gestational age and birth weight, age at the referral, clinical signs, anthropometry, bone age and hormone profile.<p ...

Introduction: Orthodenticle homeobox 2 (OTX2) is a transcription factor that plays a critical role in brain and eye development. Heterozygous deleterious mutations in this gene lead to eye malformation such as anophthalmia, microphthalmia, coloboma or optic nerve hypoplasia, normal or hypoplastic pituitary gland and normal or ectopic posterior pituitary gland with isolated growth hormone deficiency or combined pituitary hormone deficiency. There is no...

17-beta-hydroxysteroid dehydrogenase (17-beta-HSD3) deficiency is an autosomal recessive 46XY disorder of sex development (DSD), which results in impaired gonadal androstenedione conversion to testosterone. The phenotype ranges from female to ambiguous genitalia, with wolffian-duct structures and testes. HCG stimulation tests assess testosterone biosynthesis, though biochemical results in confirmed 17-beta-HSD3 deficiency may overlap with gonadal dysgenesis making diagnosis ch...