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 ...

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...