hrp0086p1-p335 | Gonads & DSD P1 | ESPE2016

Complete Androgen Insensitivity Syndrome Caused by a Deep Intronic Pseudoexon-Activating Mutation in the Androgen Receptor Gene

Kansakoski Johanna , Jaaskelainen Jarmo , Jaaskelainen Tiina , Tommiska Johanna , Saarinen Lilli , Lehtonen Rainer , Hautaniemi Sampsa , Frilander Mikko J. , Palvimo Jorma J. , Toppari Jorma , Raivio Taneli

Background: Androgen insensitivity syndrome (AIS), ranging from complete (CAIS) to partial (PAIS) and to mild (MAIS) forms of androgen resistance, is caused by mutations in the X-linked AR gene that encodes the androgen receptor. Some cases, however, remain without a molecular genetic diagnosis that would confirm the diagnosis especially in cases that have phenotypic similarities with other 46,XY disorders of sex development.Objective and hypoth...

hrp0086p2-p501 | Fat Metabolism and Obesity P2 | ESPE2016

Efficacy of the Treatment for Childhood Obesity in Specialist Care: Age Over 10 Years at Baseline and Acanthosis Nigricans Predict a Worse Outcome

Valle Marketta Dalla , Laatikainen Tiina , Nykanen Paivi , Jaaskelainen Jarmo

Background: Treatment of pediatric obesity is challenging and especially the long-term outcome has been modest in many previous studies.Objective and hypotheses: We wanted to evaluate the efficacy of obesity treatment in specialist care and to find out factors, which have a major impact on the outcome.Methods: A total of 654 children (302 girls) aged 2–18 years treated for obesity between 2005 and 2012 in three specialist clin...

hrp0086p1-p4 | Adrenal P1 | ESPE2016

Prepubertal Children Born Large for Gestational Age have Lower Serum DHEAS Concentrations than those with Lower Birth Weight

Nordman Henrikki , Voutilainen Raimo , Jaaskelainen Jarmo

Background: In some studies, prepubertal children born small for gestational age (SGA) have had a higher prevalence of premature pubarche and higher serum DHEAS concentrations than children born appropriate for gestational age (AGA). The overall metabolic risk associated with birth weight is U-shaped, but it is not known if children born large for gestational age (LGA) have elevated serum DHEAS levels.Objective and hypotheses: The aim of this study was t...

hrp0089p2-p017 | Adrenals and HPA Axis P2 | ESPE2018

Childhood Growth Advancement in Girls with Premature Adrenarche Heralds Anabolic Effects by Adulthood

Liimatta Jani , Utriainen Pauliina , Laitinen Tomi , Voutilainen Raimo , Jaaskelainen Jarmo

Background and aim: Children with premature adrenarche (PA) have often tall stature, advanced bone maturation, and a tendency to be overweight. It has been speculated that PA may lead to unfavourable outcome, including obesity-related metabolic disturbances, but the data on long-term outcome of PA are insufficient. The aim of this work was to describe adult body composition in young females with a history of PA.Subjects and design: This prospective case-...

hrp0086p1-p35 | Adrenal P1 | ESPE2016

Follow-up of Growth and Puberty in Girls and Boys with Premature Adrenarche

Liimatta Jani , Utriainen Pauliina , Voutilainen Raimo , Jaaskelainen Jarmo

Background: Premature adrenarche (PA) has been linked with early pubertal development, but only few longitudinal studies on PA girls and boys born appropriate for gestational age (AGA) have been reported.Objective: Our objective was to study growth and pubertal development in PA children, and to explore which factors in prepuberty predict early menarche in girls.Methods: PA (n=43, 36 girls) and control children (n...

hrp0084p2-190 | Adrenals | ESPE2015

Higher Serum DHEAS Concentration is Associated with Lower Plasma LDL Cholesterol Concentration in Children

Mantyselka Aino , Jaaskelainen Jarmo , Lindi Virpi , Lakka Timo

Background: Premature adrenarche is associated with overweight and insulin resistance, but the associations of serum dehydroepiandrosterone sulphate (DHEAS) concentration with other cardiometabolic risk factors are uncertain.Objective and hypotheses: We studied whether cardiometabolic risk factors and their clustering differ between children with higher and lower serum DHEAS concentration.Method: We studied 432 healthy children (20...

hrp0094p1-158 | Fetal Endocrinology and Multisystem Disorders B | ESPE2021

Low adrenal androgen levels in patients with and without primary adrenal insufficiency in APECED (APS1)

Borchers Joonatan , Jaaskelainen Jarmo , Makitie Outi , Laakso Saila ,

Objective: Treatment of primary adrenal insufficiency (PAI) is often challenging in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED or APS1). In addition, electrolyte levels often fluctuate in APECED patients. This study aimed to describe adrenal steroid and electrolyte levels in patients with APECED.Design: This cross-sectional study included 43 Finnish patients with APECED (27 females, 7 under 18 ye...

hrp0082fc4.6 | Growth | ESPE2014

Longitudinal Growth of Finnish Children With Gestational Diabetes in Mothers

Hakanen Tiina , Vuorela Nina , Lipiainen Ludmila , Salo Matti K , Nummi Tapio , Saha Marja-Terttu

Background: With the increase of overweight prevalence an increasing number of women develop gestational diabetes.Objective and hypotheses: We evaluated the growth of 6902 children of mothers with gestational diabetes. The secular trends in the prevalence of children with gestational diabetes in mothers was studied during 30 years.The material consisted of children born 1974 (n=1108), 1981 (n=977), 1991 (n</em...