hrp0082wg3.3 | DSD | ESPE2014

Long-term Outcome of Prenatal CAH Therapy

Lajic Svetlana

Prenatal treatment of CAH has been employed since the mid 1980’s, but long-term evaluation of this experimental treatment is scarce. In utero replacement with dexamethasone suppresses the fetal adrenal and reduces the androgens that virilise the female CAH fetus. The CAH girls are thus born with normal external genitalia and avoid early genital surgery. There is however an ethical dilemma, since the treatment with DEX has to be initiated early in gestation before...

hrp0095rfc5.4 | Adrenals and HPA Axis | ESPE2022

Increased resting-state functional connectivity in the medial orbitofrontal cortex of patients with autoimmune Addison's disease

van't Westeinde Annelies , Padilla Nelly , Bensing Sophie , Lajic Svetlana

Background: Patients with autoimmune Addison’s disease (AAD) lack production of glucocorticoids (GCs), mineralocorticoids (MCs) and androgens from the adrenal gland, due to autoimmune destruction of its cortex. Patients require replacement of GCs and MCs for the rest of their lives. In some cases, testosterone is supplemented in females. Brain function is sensitive to fluctuations in cortisol and may therefore be affected in AAD due to long-term disturba...

hrp0089p1-p001 | Adrenals and HPA Axis P1 | ESPE2018

Evaluation of Long Term Metabolic Effects After Prenatal Dexamethasone Treatment in the Context of CAH – the Swedish Cohort

Wallensteen Lena , Karlsson Leif , Messina Valeria , Nordenstrom Anna , Lajic Svetlana

Background: Prenatal dexamethasone (DEX) treatment is in many countries offered to the pregnant woman, at risk of having a child with classic congenital adrenal hyperplasia (CAH), to reduce virilization in an affected female fetus. The treatment is effective in reducing virilization but may give long lasting effects on somatic and cognitive health. Here, we explore the potential effect on metabolism in children and adults not having CAH and exposed to DEX during the first trim...

hrp0089p1-p003 | Adrenals and HPA Axis P1 | ESPE2018

Cognition in Children with Congenital Adrenal Hyperplasia

Messina Valeria , Karlsson Leif , Hirvikoski Tatja , Nordenstrom Anna , Lajic Svetlana

Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders, affecting around 1/10 000 newborns worldwide. Postnatally, patients with classic CAH are treated with life-long glucocorticoid (GC) replacement therapy, such as hydrocortisone or prednisolone, and in the more severe cases also with mineralocorticoids. A negative impact of GCs on human cognition such as memory deficits have been reported bot...

hrp0086p1-p37 | Adrenal P1 | ESPE2016

DNA Methylation Signatures Associated with Prenatal Dexamethasone Treatment

Karlsson Leif , Barbaro Michela , Gomez-Cabrero David , Lajic Svetlana

Background: Prenatal treatment with dexamethasone (DEX) has been used since the mid 80’s to minimize virilisation of girls with congenital adrenal hyperplasia. Long-term data on treatment safety and health outcome are still limited. It has been shown in animal models that prenatal dexamethasone treatment affects DNA methylation signatures as well as metabolism and behavior. We have previously shown that DEX affects working memory in children who were treated with DEX duri...

hrp0089fc1.2 | Adrenals & HPA Axis | ESPE2018

Long-term Effects of Prenatal Dexamethasone Treatment and Postnatal Glucocorticoid Treatment on Brain Structure in the Context of CAH

Westeinde Annelies van't , Karlsson Leif , Sandberg Malin , Nordenstrom Anna , Paddila Nelly , Lajic Svetlana

Objective: Congenital Adrenal Hyperplasia (CAH) requires life-long replacement of cortisol. Female fetuses with classical CAH are virilized, which can be prevented by prenatal dexamethasone (DEX) treatment from gestational week 7. However, 7 out of 8 fetuses are treated unnecessarily during fetal life and are thus exposed to high prenatal glucocorticoid (GC) levels. Both prenatal exposures to high GC levels, as well as long term postnatal GC-treatment in patients with CAH are ...

hrp0089p1-p006 | Adrenals and HPA Axis P1 | ESPE2018

Altered DNA Methylation in Peripheral T-cells from Patients with Congenital Adrenal Hyperplasia

Karlsson Leif , Barbaro Michela , Ewing Ewoud , Gomez-Cabrero David , Lajic Svetlana

Background: Patients with Congenital Adrenal Hyperplasia (CAH) are at risk of several co-morbidities, such as impaired cognitive functions, short stature and adverse effects on metabolism. The causes of these effects are suboptimal glucocorticoid replacement therapy, adrenal crises and prenatal glucocorticoid exposure. However, there are no data available to this day how these factors are affecting epigenomic programs.Objective and hypot...

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 ...

hrp0086p1-p18 | Adrenal P1 | ESPE2016

Adult Individuals with Classic Congenital Adrenal Hyperplasia Exhibit Deficits in Executive Functions

Karlsson Leif , Zimmermann Marius , Wallensteen Lena , Barbaro Michela , Nordenstrom Anna , Hirvikoski Tatja , Lajic Svetlana

Background: Individuals with classic congenital adrenal hyperplasia (CAH) are treated postnatally with glucocorticoids. Earlier research with animals and other disorders with excess GC exposure implicate that GCs can influence memory. Deficits in working memory can be seen already during childhood in children with classic CAH.Objective: We tested the hypothesis that adult individuals with classic CAH show impaired cognitive functions.<p class="abstex...