hrp0089p2-p371 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

No Difference in Cognitive Performance or Gender Role Behaviour in Men with and without Hypospadias

Strandqvist Anna , Ortqvist Lisa , Frisen Louise , Nordenskjold Agneta , Herlitz Agneta , Nordenstrom Anna

Background: Hypospadias is a common malformation of male external genitalia, resulting in urethral displacement with different severity. Male genital development occurs during fetal development when also the brain is developing rapidly. Genital development is dependent on androgen effect, and androgens also have impact on gender development. We here explore whether hypospadias are associated with variation in other aspects of sex typical development.<p c...

hrp0089p2-p357 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Impact of Hydrocortisone Treatment on Clitoral Size During First Year of Life in Girls with Congenital Adrenal Hyperplasia (CAH)

Svensson Johan , Halldin Stenlid Maria , Nordenskjold Agneta , Fossum Magdalena , Lajic Svetlana , Nordentstrom Anna

Objective: Early genital surgery has been the routine practice in virilized girls with severe forms of CAH for many years. During the last decade studies have shown genital surgery to have unsatisfactory effects on genital sensation and sexuality, and the current practice with early surgery has been questioned by patients and support groups as well as by clinicians and researchers. As surgery has been postponed in only few girls, published data on the effect of hydrocortisone ...

hrp0089p3-p348 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Significant Penile Growth with Local DHT-Gel in an Infant with 17-Beta HSD-Deficiency

Halldin Stenlid Maria , Nordenskjold Agneta , Frisen Louise , Svensson Johan , Lajic Svetlana , Nordenstrom Anna

We demonstrate significant penile growth in an infant with 17 beta HSD-deficiency treated with DHT-gel.Background: The child was born with ambiguous genitalia at full term. Investigations revealed 46,XY karyotype, testosterone and DHT levels were 2.5 nmol/L and <0.1 nmol/L respectively. No female internal genitalia were found. hCG stimulation did not result in an increase in testosterone, but a clinically obvious increase in phallus size. Subsequent ...

hrp0084p1-3 | Adrenal | ESPE2015

Are Heterozygous Carriers of CYP21A2 Less Vulnerable to Psychological Stress?

Nordenstrom Anna , Butwicka Agnieszka , Falhammar Henrik , Hirschberg Angelica Linden , Almqvist Catharina , Nordenskjold Agneta , Frisen Louise

Background: Congenital adrenal hyperplasia (CAH), due to 21-hydroxylase deficiency is one of the most common monogenic autosomal recessive disorders with an incidence of one in 15 000, and even more common in some populations. Do carriers have a survival advantage?Objective and hypotheses: The HPA axis has been reported to be more active in CYP21A2 carriers, and possibly enable a more rapid return to homeostasis. A compensatory increase in CRH s...

hrp0089p1-p004 | Adrenals and HPA Axis P1 | ESPE2018

Carriers of CYP21A2 Mutations have Decreased Mortality in Infectious Diseases, Anational Population Registry Study

Nordenstrom Anna , Svensson Johan , Lajic Svetlana , Frisen Louise , Nordenskjold Agneta , Norrby Christina , Almqvist Malmros Catarina , Falhammar Henrik

Background: Congenital adrenal hyperplasia (CAH) is a relatively common monogenic recessive disorder with an incidence of 1/15 000 in most populations. It has been suggested that CYP21A2 deficiency is relatively common because it may confer a survival advantage to be a carrier. Carriers of CYP21A2 mutations typically do not have clinical symptoms but have a defined phenotype. The cortisol response to ACTH stimulation has been shown to be both...

hrp0084p1-61 | DSD | ESPE2015

Current Models of Practice & Professional Development of Clinicians in DSD Centres – Results from an International Survey of Specialist Care for DSD

Kyriakou Andreas , Dessens Arianne B , Bryce Jillian , Haraldsen Ira , Iotova Violeta , Juul Anders , Krawczynski Maciej , Nordenskjold Agneta , Rozas Marta , Sanders Caroline , Hiort Olaf , Ahmed S Faisal

Background: In the optimal care of children with DSD, it is considered good practice to work within a multidisciplinary team (MDT) and engage in opportunities for professional development.Method: To explore the current models of MDT practice and the extent of professional development in specialist DSD centres, an international survey of 124 paediatric endocrinologists, identified through DSDnet and the I-DSD Registry, was performed in 2014.<p class="...

hrp0084p2-307 | DSD | ESPE2015

Diagnostic Approach to a Newborn with Suspected DSD: Results From an International Survey of Specialist Care for DSD

Kyriakou Andreas , Dessens Arianne B , Bryce Jillian , Haraldsen Ira , Iotova Violeta , Juul Anders , Krawczynski Maciej , Nordenskjold Agneta , Rozas Marta , Sanders Caroline , Hiort Olaf , Ahmed S Faisal

Background: The approach to investigating a newborn with a suspected DSD is likely to vary between centres and may be influenced by local availability.Method: To explore the current diagnostic practice and needs, an international survey of 124 paediatric endocrinologists, identified through DSDnet and the I-DSD Registry, was performed in 2014.Results: A total of 77/124 (62%) clinicians, in 74 centres, from 38/42 (91%) countries res...

hrp0089p1-p169 | Growth &amp; Syndromes P1 | ESPE2018

A Novel Type of Pubertal Height, Weight, and BMI Reference, Aligned for Onset of Puberty

Albertsson-Wikland Kerstin , Niklasson Aimon , Gelander Lars , Holmgren Anton , Aronson Stefan , Sjoberg Agneta , Lissner Lauren

Context: Specific references for height, weight and BMI that consider the maturation tempo for onset of puberty are lacking worldwide.Aim: To fill the gap, by developing specific pubertal references for heightSDS, weightSDS and BMISDS, all aligned for the individual onset of puberty.Method: Reference population: a subgroup of GrowUp1990Gothenburg cohort of 1572 (763 girls) health...

hrp0086p2-p843 | Syndromes: Mechanisms and Management P2 | ESPE2016

The Specific Pubertal Height Gain is Higher in Boys as Well as in Children with Lower BMISDS

Holmgren Anton , Niklasson Aimon , Nierop Andreas , Gelander Lars , Aronson A. Stefan , Sjoberg Agneta , Lissner Lauren , Albertsson-Wikland Kerstin

Background: Growth in height during puberty can be described by the QEPS-model as a combination of continuous basal growth, QES, and a specific pubertal growth function, P.Objective and hypotheses: To study the relationship between childhood BMISDS and the prepubertal gain and pubertal gain related to growth functions from the QEPS-model.Method: The longitudinally followed GrowUpGothenburg 1990 birth co...

hrp0082p1-d2-156 | Growth (1) | ESPE2014

Gender Difference in Secular Trend in Sweden

Holmgren Anton , Niklasson Aimon , Nierop Andreas F M , Gelander Lars , Sjoberg Agneta , Aronson Stefan , Albertsson-Wikland Kerstin

Background, objective and hypotheses: By using QEPS, a new mathematic growth model, different components of growth can be analyzed, comparing secular trends of prepubertal and pubertal growth in Swedish birth cohorts born 1974 and 1990.Materials and methods: Two birth cohorts followed to adult height (AH) born around 1974 (1691 boys; 1666 girls) and 1990 (1647 boys; 1501 girls) being healthy, Nordic and born term. A subpopulation of 1974 (1177 boys; 1168...