hrp0086p1-p337 | Gonads & DSD P1 | ESPE2016

46,XY Partial Gonadal Dysgenesis Caused by an Xp21.2 Interstitial Duplication that Does not Encompass the NR0B1 Gene

dos Santos Ana Paula , Piveta Cristiane dos Santos Cruz , de Andrade Juliana Gabriel Ribeiro , Fabbri Helena Campos , Lopes Vera Lucia Gil da Silva , Junior Gil Guerra , Guerra Andrea Trevas Maciel , Mello Maricilda Palandi

Background: A portion of 160 kb on Xp21.2 is defined as dosage sensitive sex reversal, including NR0B1, which is considered the most likely candidate gene involved in XY gonadal dysgenesis if overexpressed. The excess of NR0B1 gene product seems to disturb testicular development by down regulating NR5A1, WT1, and SOX9. Xp duplication causes insufficient SRY expression leading to testis development failure. However, NR0B1 si...

hrp0086p1-p927 | Thyroid P1 | ESPE2016

Prevalence of Congenital Hypothyroidism and Thyroid Function Follow-Up of Children with Tsh Cutoff between 5 and 10 mIU/l in Neonatal Screening

Christensen-Adad Flavia Correa , Mendes-dos-Santos Carolina Taddeo , Goto Maura Mikie Fukujima , Sewaybricker Leticia Esposito , Guerra-Junior Gil , D'Souza-Li Lilia Freire Rodrigues , Morcillo Andre Moreno , Lemos-Marini Sofia Helena Valente

Objective: To determine the prevalence of congenital hypothyroidism (CH) in children with dry bloodspot TSH (b-TSH) between 5 and 10 mIU/l in neonatal screening and evaluate their thyroid function evolution.Methods: Retrospective study of thyroid function in children born from 2003 to 2010 with b-TSH between 5 and 10 mIU/l who were put on treatment in the first two years of life due to serum TSH≥10 mIU/l. The prevalence of CH ...

hrp0086lbp10 | (1) | ESPE2016

Molecular Analysis of AR, SRD5A2, NR5A1 and HSD17B3 Genes in a Brazilian 46,XY DSD Cohort

Petroli Reginaldo Jose , Lessa Victor Jose Correia , Vieira Larissa Clara , de Calais Flavia Leme , Fabbri Helena Campos , Henriques Taciane Barbosa , dos Santos Cruz Piveta Cristiane , do Nascimento Diogo Lucas Lima , de Mello Maricilda Palandi , Monlleo Isabella Lopes

Background: Disorders of Sex Development (DSD) comprise several phenotypes due to dysfunction in genes involved in human sexual determination and differentiation. The most frequent aetiologies among 46,XY DSD are androgen insensitivity syndrome and 5-alpha-reductase type 2 deficiency due mutations in AR and SRD5A2 genes, respectively.Objective and hypotheses: The purpose of this study was to investigate mutations in AR and ...

hrp0082p2-d2-574 | Sex Development (1) | ESPE2014

Analysis of Steroid 5-Alpha Reductase 2 (SRD5A2) Gene in Patients with 46,XY Disorder of Sex Development

de Souza Giselle Neres , Machado Aline Zamboni , Prado Arnhold Ivo Jorge , Mendonca Berenice , Palma Sircili Maria Helena , Nishi Mirian Yumie , Barbosa Silva Rosana , Frade Costa Elaine Maria , Domenice Sorahia

Background: The diagnosis of 46,XY disorder of sex development (DSD) due to 5-alpha reductase 2 (5α-RD2) deficiency has been based on testosterone:dihydrotestosterone (T:DHT) ratio, urinary steroid profiling and mutational analysis of SRD5A2 gene. The biochemical hallmarks of 5α-RD2 deficiency include increased T:DHT ratio. However, several difficulties are observed in the DHT measurement leading to misdiagnosis. The mutational analysis of the SRD5A2 has been propose...

hrp0084p2-221 | Bone | ESPE2015

Evidence of a Link Between Resting Energy Expenditure and Bone Remodelling, Glucose Homeostasis and Adipokine Variations in Adolescent Girls with Anorexia Nervosa

Maimoun Laurent , Guillaume Sebastien , Lefbvre Patrick , Philibert Pascal , Bertet Helena , Picot Marie-Christine , Gaspari Laura , Paris Francoise , Sennec Maude , Dupuys Anne-Marie , Courtet Philippe , Thomas Eric , Mariano-Goulart Denis , Bringer Jacques , Renard Eric , Sultan Charles

Purpose: Low areal bone mineral density (aBMD) is a well-known consequence of anorexia nervosa (AN). However, the impact of reduced energy expenditure on bone metabolism is unknown. This study assessed the effects of energy deficiency on bone remodelling and its potential interactions with glucose homeostasis and adipose tissue-derived hormones in AN, a clinical model for reduced energy expenditure.Methods: 50 women with AN and 50 age-matched controls (m...

hrp0094p2-1 | Adrenals and HPA Axis | ESPE2021

Circadian rhythm of salivary cortisol and cortisone in school-aged children born very preterm and adequate for gestational age

Ochoa Maria Fernanda , Dominguez Gonzalo , Poggi Helena , Martinez Alejandro , Moore Rosario , Garcia Hernan , D’apremont Ivonne , Allende Fidel , Solari Sandra , Campino Carmen , Fardella Carlos , Baudrand Rene , Carvajal Cristian ,

Introduction: Higher evening cortisol level has been previously described in very preterm infants, possibly reflecting increased Hypothalamic-Pituitary-Adrenal Axis (HPA) tone or alterations in HPA regulation throughout the day. These relatively subtle differences in HPA axis function in preterm compared to full-term children may become meaningful in terms of metabolic risk later in life if sustained over time. Still, only a few studies have investigated wheth...

hrp0097p1-184 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Retrospective Analysis of Individuals with Differences in Sex Development (DSD) in a Brazilian Single-Center Study Across the Lifespan

Batista Rafael , Gomes Nathalia , Bachega Tania , Madureira Guiomar , Miranda Mirela , Dallago Renata , Teresa Ferrari Maria , Lousada Lia , Craveiro Flora , Batatinha Julio , Scalco Renata , Jorge Alexander , Costa Elaine , Helena Sircili Maria , Denes Francisco , Inacio Marlene , Nishi Mirian , Domenice Sorahia , Mendonca Berenice

Context: Differences in sex development (DSD) represent a broad spectrum of conditions that can present at different ages to various healthcare professionals with different backgrounds.Design: This is a retrospective, observational cohort that includes all DSD subjects referred to a multi-professional DSD team over a period of 41 years (from 1980 to 2021).Participants: A total of 6...

hrp0098p2-240 | Pituitary, Neuroendocrinology and Puberty | ESPE2024

Serum MKRN3 levels in girls with central precocious puberty due to MKRN3 loss-of-function mutation

Baracho Macena Larissa , Ribeiro Piovesan Maiara , Almeida Bastos Aline , Fernandes Pedrosa Ludmila , Ribeiro Montenegro Luciana , Pinheiro Machado Canton Ana , Pantaleiou Valassi Helena , Bilharinho Mendonca Berenice , Claudia Latronico Ana , Nahime Brito Vinicius

Background: MKRN3 is known to decline prior to pubertal development in healthy individuals, indicating a potential inhibitor effect on reproductive axis. Currently, MKRN3 loss-of-function mutations represent the main genetic cause of familial central precocious puberty (CPP) in both sexes. The impact of these mutations on MKRN3 serum levels is poorly understood.Aim: To assess serum MKRN3 levels in girls with CPP...

hrp0095p2-310 | Late Breaking | ESPE2022

GH Treatment in A Girl with Acrodysostosis Type 2 Due to Novo Mutation in PDE4D gene

Nikitas Skarakis Spyridon , Karachaliou Fotini-Heleni , Simatou Aristofania , Tsintzou Eleni , Papadopoulou Anna

Acrodysostosis (ACRDYS) (MIM 101800) is a rare autosomal dominant condition affecting skeletal growth and resulting in primary skeletal dysplasia. Two types of ACRDYS have been described and characterized by distinct references on OMIM database. ACRDYS is similar and often confused with PHP1A, but caused by mutations downstream of the genes involved in PHP1A. Most of the patients have de novo variants. Both types of ACRDYS present with similar skeletal abnormalities (dispropor...

hrp0094p2-23 | Adrenals and HPA Axis | ESPE2021

Serum cortisol and cortisone, and urinary cortisol, cortisone, and tetrahydro-metabolites concentrations in school-aged children born very preterm adequate for gestational age

Dominguez-Menendez Gonzalo , Ochoa-Molina Maria Fernanda , Poggi Mayorga Helena , Allende Sanzana Fidel , Solari Guajardo Sandra , Fardella Bello Carlos E. , Carvajal Cristian A. , Campino Johnson Carmen , Baudrand Biggs Rene , Garcia Bruce Hernan , Moore Valdes Rosario , D’apremont Ormeno Ivonne , Martinez-Aguayo Alejandro ,

Introduction: Cortisol homeostasis dysregulation has been associated to essential hypertension in adults. Higher levels of cortisol have been described in preterm-born individuals, who have also a higher risk of hypertension at younger ages. Several enzymes modulate peripheric cortisol metabolism. The 11b-hydroxysteroid dehydrogenase (11b-HSD) type 2 metabolizes cortisol into cortisone, preventing mineralocorticoid receptors’ activation by cortisol. The i...