hrp0086p2-p413 | Gonads & DSD P2 | ESPE2016

Two Patients Presenting the Extremes of the Phenotypic Spectrum of 5 alfa Reductase Deficiency: One with at New Mutation

Jensen Karen S , Hvistendahl Gitte M , Kristensen Kurt , Olsen Henning , Vogel Ida , Birkebaek Niels H

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...

hrp0082p1-d3-230 | Reproduction (2) | ESPE2014

Increasing Incidence of Premature Thelarche in the Central Denmark Region? Who Evolve into Precocious Puberty?

Somod Mia Elbek , Vestergaard Esben Thyssen , Kristensen Kurt , Birkebaek Niels Holtum

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...

hrp0084p2-543 | Puberty | ESPE2015

The Endocrine Response to a Gonadotropin Releasing Hormone (GnRH) Test: Establishing a Reference Interval in Healthy Girls below 6 Years of Age

Vestergaard Esben , Somod Mia , Kamperis Kostas , Kastberg Karin , Rittig Soren , Kristensen Kurt , Birkebaek Niels

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...

hrp0086p1-p110 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Increase in Sclerostin After Rapid Weight Loss in Children

Birkebaek Niels H , Frystyk Jan , Lange Aksel , Holland-Fischer Peter , Kristensen Kurt , Rittig Soren , Vilstrup Henrik , Henning Gronbaek

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...

hrp0092p1-136 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Serum Estradiol is Associated with Inhibin B in Healthy 1-6 Years Old Girls

Birkebaek Niels H. , Schørring Mia E. , Frederiksen Hanne , Kamperis Konstantinos , Kristensen Kurt , Rittig Søren , Juul Anders , Vestergaard Esben T

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...