hrp0086p1-p216 | Diabetes P1 | ESPE2016

Thyroid and Islet Autoantibodies Predict Autoimmune Thyroid Disease Already at Diagnosis of Type 1 Diabetes

Jonsdottir Berglind , Larsson Christer , Carlsson Annelie , Forsander Gun , Anders Ivarsson Sten , Lernmark AEke , Ludvigsson Johnny , Marcus Claude , Samuelsson Ulf , Ortqvist Eva , Elding Larsson Helena

Background: Screening for autoimmune thyroid disease in children and adolescents with type 1 diabetes lacks consensus. Optimal screening methods should benefit the patients and reduce costs to healthcare.Objective and hypotheses: To, at diagnosis of type 1 diabetes, determine the predictive value of thyroid autoantibodies, thyroid function, islet autoantibodies, and HLA-DQ for autoimmune thyroid disease.Method: At diagnosis of type...

hrp0082p1-d3-100 | Sex Development | ESPE2014

Quality of Life in a Large Cohort of Adult Brazilian Patients with 46,XX and 46,XY Disorders of Sex Development from a Single Tertiary Centre

Amaral Rita , Inacio Marlene , Brito Vinicius , Bachega Tania , Oliveira Ari , Domenice Sorahia , Denes Francisco , Sircilli Maria Helena , Arnhold Ivo , Madureira Guiomar , Gomes Larissa , Costa Elaine , Mendonca Berenice

Background: Few studies have focused on the quality of life (QoL) of patients with disorders of sex development (DSD).Objective and hypotheses: Our aim was to evaluate QoL in DSD patients with defined diagnoses followed until adulthood in a single tertiary centre.Method: Subjects: adult DSD patients (56 patients with 46,XX DSD – 49 with female social sex and seven with male social sex as well as 88 patients with 46,XY DSD &#15...

hrp0082p2-d3-345 | Diabetes (2) | ESPE2014

Improvement in Type 1 Diabetes Mellitus Metabolic Control: From Conventional to Functional Insulin Therapy

Serra-Caetano Joana , Ferreira Sara , Lourenco Helena , Aveiro Lina , Batista Nanci , Freitas Filomena , Simao Luisa , Cardoso Rita , Dinis Isabel , Mirante Alice

Background: Type 1 diabetes mellitus (1DM) is a common chronic disease of childhood. Treatment targets the best metabolic control in order to prevent long-term complications.Objective: To evaluate metabolic control in children and adolescents with 1DM along the years. Methods: Retrospective study including 1DM children and adolescents with more than 2 years of disease. Data were collected at 2005 and at 2012: sex, age at diagnosis, therapy in the last ye...

hrp0082lbp-d3-1009 | (1) | ESPE2014

Family Studies of CYP21A2 Gene Identify Different Haplotypes for Nonclassical 21-Hydroxylase Deficiency in Brazilian Population

de Paula Michelatto Debora , Grimaldi Larissa Magalhaes , Alpiste Marcel Costa , Baptista Maria Tereza Matias , Guerra-Junior Gil , Valente de Lemos-Marini Sofia Helena , Palandi de Mello Maricilda

Background: Congenital adrenal hyperplasia, one of the most frequent autosome recessive disorders, is caused by defects in steroidogenic enzymes involved in the cortisol biosynthesis. Approximately 95% of cases are caused by a deficiency of the 21-hydroxylase enzyme. Its deficiency leads to androgen excess, consequently, to virilization and rapid somatic growth with accelerated skeletal maturation. Mutations in CYP21A2 are responsible for different forms of 21-hydroxylase defi...

hrp0084p3-639 | Bone | ESPE2015

Is Serum Serotonin Involved in the Bone Loss of Young Females with Anorexia Nervosa?

Maimoun Laurent , Guillaume Sebastien , Lefebvre Patrick , Philibert Pascal , Bertet Helena , Picot Marie-Christine , Gaspari Laura , Paris Francoise , Mariano-Goulart Denis , Renard Eric , Sultan Charles

Objective: Recent experimental data suggest that circulating serotonin interacts with bone metabolism, although this is less clear in humans. This study investigated whether serum serotonin interferes with bone metabolism in young women with anorexia nervosa (AN), a clinical model of energy deprivation.Methods: Serum serotonin, markers of bone turnover (osteocalcin (OC), procollagen type 1 N-terminal propeptide (PINP), type 1-C telopeptide breakdown prod...

hrp0094fc5.4 | Sex Development and Gender Incongruence | ESPE2021

Reproductive hormone levels in Minipuberty as a predictor of Testicular Endocrine Function and Penile Length in Healthy Young Men: An 18-year longitudinal Cohort Study

Henriksen Louise S. , Petersen Jorgen H. , Skakkebaek Niels E. , Jorgensen Niels , Virtanen Helena E. , Juul Anders , Toppari Jorma , Main Katharina M. ,

Background: Minipuberty denotes a period 1–6 months postnatally in boys during which a transient activation of the hypothalamic-pituitary-gonadal axis is observed. This early hormone activation can be used diagnostically in patients suspected of pituitary deficiency and differences in sex development. However, its significance for prediction of reproductive function in healthy young men is unknown.Objective: To eval...

hrp0094p2-399 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Self-reported Feelings of Adult Patients with Differences of Sex Development (DSD) Regarding Genital Surgical Procedures

Lousada Lia , Domenice Sorahia , MF Costa Elaine , ASS Bachega Tania , Madureira Guiomar , Inacio Marlene , Helena P Sircili Maria , T Denes Francisco , Mendonca Berenice B ,

Introduction: DSD patients present varied degrees of atypical genitalia. The social sex assignment and the surgery decisions must be proceeded by a multidisciplinary team approach with the family. Surgeries should be only performed by experienced surgeons. The current trend is the early correction, but some patients and non-governmental entities argue that the surgeries should be delayed until the patient’s consent.Objective...

hrp0097fc14.1 | Late Breaking | ESPE2023

Sleep health characteristics in children with congenital adrenal hyperplasia

Golob Laura , Liu Wenxi , Mercado-Munoz Yesica , Singh Anvita , Hodges James , Siegel Lianne , Morero Helena , Gao Zan , Simon Stacey , Sarafoglou Kyriakie

Introduction: Cortisol secretion is circadian-driven and plays a significant role in sleep quality. In children with congenital adrenal hyperplasia (CAH) hydrocortisone is the preferred treatment. Hydrocortisone has a short half-life producing alternating hyper- and hypocortisolemia, a non-physiologic cortisol profile, likely disrupting sleep. However, minimal literature exists on sleep health in children with CAH.Objective:</str...

hrp0097p1-8 | Adrenals and HPA Axis | ESPE2023

Congenital Adrenal Hyperplasia (CAH): Situation and Possibility to Develop a Newborn Screening in Indonesia -- An Exploratory Study

Pulungan Aman , Armstrong Kate , Fadiana Ghaisani , Idaayen Fatima , Waladhiyaputri Vahira , Patricia Chandra Angelina , Fadia Ratnasari Amajida , Arnetta Puteri Helena , Utari Agustini

Introduction: Indonesia, an archipelago with approximately 17,000 islands and 34 provinces has around 4.8 million babies born annually, yet only 2-3% undergo newborn screening (NBS) resulting in high preventable disease burdens. Currently, the country only has 1 newborn screening project which will be relaunched and aimed to cover 30-40% of babies. Health policy plays a huge role in determining the day-to-day lives of children, families, and health professiona...

hrp0095p2-22 | Adrenals and HPA Axis | ESPE2022

Two Familial Cases of Congenital Adrenal Hyperplasia Combined or Complicated with Central Precocious Puberty

Markosyan Renata , Aghajanova Yelena

Central precocious puberty (CPP) may be secondary to congenital adrenal hyperplasia (CAH), due to 21-hydroxylase deficiency. CPP in CAH may be associated with elevated sex-steroid levels and possibly a decline in negative sex-steroid feedback after treatment initiation. We experienced the two family cases of the salt-wasting form of the CAH, complicated by CPP with early maturation of the hypothalamic-pituitary-gonadal axis in all patients from two families.<p class="abste...