hrp0092rfc13.6 | Adrenals and HP Axis | ESPE2019

Inhibitory Effects of Curcuminoids on the Enzymes from the Steroidogenic Pathway

Rodríguez Castaño Patricia , Pandey Amit V

Background: Turmeric is a popular ingredient in the cuisine of many Asian countries. It is also known for its use in Chinese and Ayurvedic medicine. It comes from the root of the Curcuma longa. Turmeric is rich in curcuminoids, including curcumin, demethoxycurcumin, and bisdemethoxycurcumin. Curcumin has potent anti-inflammatory and anti-carcinogenic activities. Since many anti-cancer drugs target enzymes from the steroidogenic pathway, we tested the bioactivi...

hrp0092fc10.5 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Transcriptome Analysis of Novel Sertoli Cell Models to Highlight Potential Genes Involved in DSD Mechanism of Disease

Gutiérrez Daniel Rodríguez , Sproll Patrick , Biason-Lauber Anna

Background: Determination of the gonads in men is closely dependent on Sertoli cells differentiation and maturation. Many cases of differences of sex development (DSD) are caused by variations in these processes. The study of the mechanisms underlying these complex conditions is crucial for optimal clinical management and Sertoli cells would be an ideal model for this purpose. Our human Sertoli-like cell model (SLCs) may shed some light on the identification o...

hrp0092p2-254 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Paediatric Health Assistance to Transsexual Minor in the Multidisciplinary Care Unit of the Basque Country (Spain)

Rica Itxaso , Grau Gema , Vela Amaia , Rodríguez Amaia , Guadilla M. Luisa

In 2009, the National Health Service of the Basque Country created a Gender Identity Reference Unit (GIU-BC) to cover the health needs of the transsexual population with a multidisciplinary assessment: Psychiatry, psychology, endocrinology, plastic and reconstructive surgery. Pediatric endocrinologists and pediatric psychiatry were included in 2013.Aim: To know the activity of Pediatric Endocrinology in the GIU-BC since 2013.<p class...

hrp0094p2-407 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Is the recommended dual therapy for transsexual boys harmless?

Rica Itxaso , Garcia Marta , Grau Gema , Vela Amaia , Rodríguez Amaia , Luisa Guadilla M.

Objective: To study the impact of dual therapy on BMD and Inhibin B in a group of transsexual male adolescents who initiate treatment with advanced pubertal development.Patients and methodology: Retrospective study of 16 male minors who initiated treatment (Triptorelin and later Testosterone) with complete pubertal development. Variables included: age, weight and height at baseline and at the last visit (calculated in SDS for assigned age and sex), BMD i...

hrp0092fc10.2 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

The Fruit Fly, Drosophila Melanogaster, as a Model to Elucidate Human Differences of Sex Development (DSD)

Mercadé Ivan Domènech , Sotillos Sol , Gutiérrez Daniel Rodríguez , Nef Serge , Hombría James C-G , Biason-Lauber Anna

Background: An activation cascade of specific genes sets up the initiation of sex determination leading in males to testes formation and synthesis of testicular hormones. Disruption of this gene cascade may cause a spectrum of disorders/differences of sex development (DSD) phenotypes. Here we describe for the first time two sisters suffering from 46,XY DSD, who by whole exome sequencing were shown to carry a mutation in the X-linked StAR-related lipid transfer...

hrp0092fc14.3 | GH and IGF3 | ESPE2019

PAPP-A2 Deficiency Induces Sex-Specific Changes in Hydroxyapatite-(CaOH) Crystallinity and the Effects of IGF-1 on Bone Composition in Adult Mice

Vargas Antonio , Rubio Leticia , Rivera Patricia , Christians Julian , de Fonseca Fernando Rodríguez , Chowen Julie , Suárez Juan , Argente Jesús

Deficiency of pregnancy-associated plasma protein-A2 (PAPP-A2), a regulator of IGF-1 availability, causes postnatal growth failure in humans and mice, at least in part through dysregulation of bone size and density. The present study aimed to determine the effects of Pappa2 gene deletion and the response to recombinant murine IGF-1 (rmIGF-1) on femur microstructure and composition. Hydroxyapatite-related crystallography and ionic substitutions were analyzed by X-ray p...

hrp0092rfc14.1 | Adrenals and HP Axis | ESPE2019

PAPP-A2 Deficiency Results in Sex-Dependent Modifications in Hypothalamic Regulation of Energy Homeostasis

Rivera Patricia , Vargas Antonio , Bonsón Javier , Christians Julian , Rodríguez de Fonseca Fernando , Chowen Julie , Suárez Juan , Argente Jesús

Pregnancy associated plasma protein (PAPP)-A2 is an insulin-like growth factor (IGF) binding protein (BP) protease that regulates IGF-1 availability affecting postnatal growth. Mutations in human PAPP-A2 cause short stature and changes in bone size and mineral density. The present study aimed to characterize the effects of constitutive Pappa2 gene deletion on hypothalamic regulation of energy homeostasis in adult male and female mice. In addition to being sho...

hrp0094p2-427 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

High throughput screening of DSD candidate genes with the help of the powerful model Drosophila melanogaster

von der Decken Isabel , Gutiérrez Daniel Rodríguez , Sotillos Sol , Castelli-Gair Hombria James , Sprecher Simon , Lauber Anna

Drosophila melanogaster as a study model has already significantly contributed to the understanding of the mechanisms of many human diseases. So far D. melanogaster has rarely been exploited as a model for human sex development. Nanda et.al already demonstrated in 2009 that the Drosophila orthologue of SOX9, Sox100B is essential for testis development in Drosophila. Similarly, we could demonstrate that the fly homolog of STARD8, cv-c</...

hrp0092p1-72 | GH and IGFs | ESPE2019

Diagnostic Value of Random Serum Growth Hormone (GH), IGF-I and IGFBP-3 Concentrations for the Diagnosis of Growth Hormone Deficiency (GHD) in Patients Below One Year of Life

Ballerini María Gabriela , Braslavsky Débora , Freire Analía Verónica , Keselman Ana , Rodríguez María Eugenia , Altube Mercedes , Scaglia Paula Alejandra , Bergadá Ignacio , Ropelato María Gabriela

GHD diagnosis in neonates and infants is a challenge owing to the fact that GH pharmacological stimulation tests (GHST) are not approved at this age. In a retrospective study, we found that a random GH<6.5 µg/L confirmed GHD diagnosis in neonates with clinical suspicion of GHD with high diagnostic accuracy (1). The accuracy of GH and its surrogates of action have not been set for infants with current standardized immunoassays.Objective</...

hrp0092p2-279 | Thyroid | ESPE2019

Diagnosis of Central Congenital Hypothyroidism and Multiple Pituitary Deficiencies Through a Neonatal Screening Program

Grau Gema , Concepción Fernández María , Artola Elena , Sarasua Ainhoa , Lizarralde Eneritz , Pintos Carla , Vela Amaia , Rodríguez Amaia , Díez Ignacio , Rica Itxaso

The congenital central hypothyroidism (CCH) incidence is estimated at 1:18,000-30,000 neonates and most are included in multiple pituitary deficiencies (MPD). Clinical depend on the etiology, the deficit severity; other associated hormonal alterations and the age of diagnosis. Neonatal screening (NS) for congenital hypothyroidism that includes T4 facilitate its diagnosis.Objetives: •To evaluate the characteristics of patients with C...