ESPE Abstracts

Background: The large phenotypic spectrum of Disorders of Sex Development are caused by mutations in many different genes, but a large phenotypic spectrum of sexual disturbancies may also be seen with different mutations in the same gene.Objective and hypotheses: To report on one new mutation in the 5 alfa reductase (SRD5A2) gene, and describe the extremes of the phenotypic spectrum of 5 alfa reductase deficiency presented in two patients.<p class="a...

Background: Premature thelarche (PT) may evolve into precocious puberty (PP). The incidence of PP in girls has increased during the last two decades. The epidemiology of PT in the first years of life is less well described.Objective and hypotheses: We aimed to identify 0–6 year old girls referred to paediatric evaluation for PT in order to examine if the number of girls with PT is increasing, and to describe clinical characteristics of the girls wit...

Background: Premature thelarche and precocious puberty are frequently diagnosed even in girls below 6 years of age. A GnRH test is often included in the diagnostic work up. Interpretation of the GnRH test in girls below 6 years of age is, however, difficult, because the reference interval has not been established in this age group.Objective and hypotheses: To establish the normal endocrine response to a GnRH test in healthy girls below 6 years of age.</p...

Background: Sclerostin is secreted by the osteocyte and inhibits bone formation by osteoblasts and is thus a negative regulator of bone formation. In adults, sclerostin levels increase after weight loss, which may be prevented by exercise training. The effect of weight loss on sclerostin in children is unknown.Objective and hypotheses: To compare sclerostin levels in children before and after a 10 weeks stay at a weight loss camp (WLC).<p class="abst...

Background: The female gonadal axis is activated in mini-puberty and thereafter it is quiescent until puberty. We have shown that many girls with no clinical sign of puberty in the age group 1-6 yr. have a rather strong luteinizing hormone (LH) and follicle stimulating hormone (FSH) response to a gonadotropin releasing hormone (GnRH) test. However, stimulated LH and FSH values decreased in the age interval 1-6 yr and no LH/FSH values rose above 0.43. Serum est...