hrp0084fc14.4 | Puberty | ESPE2015

Genetic Variation of AMH Signaling Affects AMH and Inhibin B Levels in Healthy Peripubertal Girls

Hagen Casper P , Almstrup Kristian , Main Katharina M , Juul Anders

Background: Anti-Müllerian hormone (AMH) is produced by small growing ovarian follicles. It inhibits both FSH induced maturation of follicles as well as aromatase activity. Genetic variation of AMH signalling is associated with age at menopause and circulating oestradiol levels, i.e. AMH rs10407022 T>G (intragenic) and AMHR2 rs11170547 C>T (putative enhancer).Objective and hypotheses: This present study aims to investigate ...

hrp0084p2-208 | Bone | ESPE2015

Bone Mineral Density in Children and Adolescents with Vertical HIV Infection

Vargas Deisi Maria , Prust Daniela Oliveira , Galvao Jose Carlos

Background: Chronic diseases are the main causes of bone mass reduction in childhood and adolescence. Different aspects related to the process of bone acquisition and maintenance may be affected. Studies had point out the presence of bone mass reduction in children and adolescents with HIV infection with association to antiretroviral use, chronological age (CA), weight and serum CD4 T-cell counts. However, others do not.Objective: To evaluate bone minera...

hrp0084p2-268 | Diabetes | ESPE2015

MODY-GCK and MODY-HNF1A in Children and Adolescents in Russian Population

Sechko Elena , Zilberman Lubov , Ivanova Olga , Kuraeva Tamara , Peterkova Valentina

Background: The most common forms of maturity-onset diabetes of the young (MODY) are MODY-GCK and MODY-HNF1A. Prevalence of MODY in Russian population is unknown.Aims and objectives: To compare clinical laboratory characteristics of MODY-GCK and MODY-HNF1a in children and adolescents, to estimate prevalence of MODY.Method: 151 children and adolescents were screened for mutations in GCK and HNF1A. HbA1c, fasting and stimulated gluco...

hrp0084p2-411 | GH & IGF | ESPE2015

Estimation of Adipsin, Omentin and Vaspin Concentration in Prepubertal Children with GH Deficiency before and after 6 Months of GH Treatment

Rudzka-Kocjan Agnieszka , Szalecki Mieczyslaw

Background: GH deficiency (GHD) is usually associated with excess of abdominal fat tissue and increased risk of developing cardiovascular diseases. Adipose tissue produces different adipocytokines that could explain the relationship between excess of fat tissue and increased metabolic risk. Adipsin, omentin and vaspin are adipocytokines which are still not well examined.Objective and hypotheses: To estimate the effect of 6 months GH therapy on serum conc...

hrp0084p3-936 | GH & IGF | ESPE2015

Adherence to GH Treatment: Impact of Actual Height, Treatment Duration, and Puberty

Rothermel Juliane , Scheite Karl , Nazari Nadine , Hauffa Berthold , Reinehr Thomas

Background: Adherence to GH treatment is a challenge.Objective and hypotheses: We analysed the impact of treatment duration, treatment success, treatment indication, age, gender, pubertal stage, and height on treatment adherence (TA) to optimise treatment success.Method: Based on the easypod autoinjector used in the Saizen-online prospective, multicenter, open-label, noninterventional study we analyzed TA in 6 months periods. TA wa...

hrp0094fc5.3 | Sex Development and Gender Incongruence | ESPE2021

Fetal Anogenital Distance (AGD) by Ultrasonography: a Marker of Early Androgen Exposure in utero?

Fischer Margit Bistrup , Scheel Lone , Sundberg Karin , Juul Anders , Hagen Casper P ,

Background: The anogenital distance (AGD) is defined as the distance from the anus to genital tubercle. AGD is an established method for sex determination of pups in rodents, and in animal studies, AGD is strongly affected by androgen exposure during fetal life. In accordance, human studies have reported reduced postnatal AGD following prenatal exposure to anti-androgenic agents, suggesting AGD to be a sensitive postnatal read out of in utero exposure...

hrp0094fc10.1 | Thyroid | ESPE2021

Natural history of congenital hypothyroidism in the last two decades: what is changing? Experience of a single tertiary Italian paediatric centre.

Bruzzi Patrizia , Donini Valentina , Ciancia Silvia , Lucaccioni Laura , Predieri Barbara , Iughetti Lorenzo ,

Background and Aim: Congenital hypothyroidism (CH) is a well-known condition. Nevertheless, recent questions in clinical practice, especially in neonatal intensive care setting, prompted us to review the natural history of CH in our cohort.Methods: This is a retrospective, observational study collecting anamnestic, anthropometric (height SDS, BMI SDS), diagnostic (TSH, fT4, thyroid ultrasound) and therapeutic data (dose ...

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...

hrp0094p2-461 | Thyroid | ESPE2021

Early reassessment in congenital hypothyroidism

Grau Gema , Bertholt María Laura , Chueca María , Artola Elena , Fernández María Concepción , Sarasua Ainhoa , Rodríguez Amaia , Vela Amaia , Berrade Sara , Naranjo Cristina , Puges Laura , Diez Ignacio , Espada Mercedes , Ascunce Nieves , Porras Begoña , Rica Itxaso

Introduction: 2020 ESPE guidelines recommend early reevaluation in primary congenital hypothyroidism (PCH) with thyroid in situ (TIS) and with levothyroxine dose lower than 3 mg/kg/day.Materials and Methods: Our Congenital Hypothyroidism screening program determine TSH and TT4 in dried blood spot (DBS) at 48 hours of life. A second DBS (DBS2) is indicated when the first is positive. Multicenter retrospective study (05/2016-05/2020; 105...

hrp0094p2-480 | Thyroid | ESPE2021

TBG deficiency and Central Congenital Hypothyroidism (CCH): Our experience in neonatal screening with TSH and T4

Chueca Maria J. , Grau Gema , Bertholt Laura , Artola Elena , Fernández Concepción , Sarasua Ainhoa , Rodriguez Amaia , Vela Amaia , Belza Amaia , Berrade Sara , Dura Teodoro , Alonso Pablo , Puges Laura , Diez Ignacio , Espada Mercedes , Ederra Maria , Ascunce Nieves , Porras Begoña , Rica Itxaso

Objective: Analyze CCH detection program results from 3 Autonomous Communities: TSH and total T4 (TT4) in dried blood spot (DBS) at initial screening (48 hours of life) and at retesting. Describe the characteristics of neonates with screening compatible with CCH. Consider whether TBG deficiency (TBGD) is an added difficulty in said study.Materials and Methods: Retrospective study (May 2016-May 2020) of all neonates ≥33 weeks and/or ≥1500 gr...