hrp0092p2-46 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Seasonal 25-hydroxy Vitamin D3 Variations in School-aged Children from Santiago de Chile

Poggi Helena , Dominguez Gonzalo , Monica Arancibia , Moore Rosario , D'Apremont Ivonne , Solari Sandra , Allende Fidel , Sifaqui Sofia , Garcia Hernan , Martinez-Aguayo Alejandro

Introduction: The main role of Vitamin D (VitD) is the regulation of calcium, which is also regulated by the parathyroid hormone (PTH), and phosphate metabolism. The main source of the more biologically active 25-hydroxy-Vitamin D3 (25OHVitD3) comes from the action of ultraviolet light on the skin.Aim: To determine if there are differences in concentrations of 25OHVitD3, calcium and PTH in school-aged children throughout...

hrp0089p2-p292 | Multisystem Endocrine Disorders P2 | ESPE2018

Aldosterone, Renin, Sodium and Potassium Excretion in Normotensive Prepubertal Children

Martinez-Aguyo Alejandro , Poggi Helena , Campino Carmen , Peredo Soledad , Baudrand Rene , Carvajal Cristian , D'Apremont Ivonne , Moore Rosario , Solari Sandra , Allende Fidel , Fardella Carlos

Introduction: Previous studies have demonstrated that hypertension may begin early in the life. Under physiological conditions, the Renin-Angiotensin-Aldosterone System (RAAS) is highly variable due to variations in salt intake and other factors, making it difficult to interpret results. We measured aldosterone and renin, and compared them with sodium and potassium excretion in a normotensive pre-pubertal population.Methods: A cross-sectional study was ...

hrp0082p1-d2-69 | Diabetes (1) | ESPE2014

Activation of Insulin/IGF1 Signaling Could Increase Hypothalamic Lipid Anabolism in Non-Diabetic IRS2-Deficient Mice

Barrios Vicente , Baquedano Eva , Canelles Sandra , Gonzalez-Rodriguez Agueda , Burgos-Ramos Emma , Chowen Julie A , Frago Laura M , Valverde Angela M , Argente Jesus

Background: Insulin/IGF1 signaling plays a critical role in central glucose bioavailability and lipid metabolism. An increase in glucose disposal can generate reducing agents through the pentose-phosphate pathway necessary for the synthesis of free fatty acids (FFA). Disturbances in lipid synthesis are related to the appearance of insulin resistance and diabetes. The insulin receptor substrate 2 (IRS2) deficient mice (IRS2−/−) is an excellent model to st...

hrp0084fc6.2 | Gonads & DSD | ESPE2015

A Role for DMRT1 in Human Primary Sex-Determination

Rojo Sandra , Murphy Mark , Lee John , Gearhart Micah , Kurahashi Kayo , Banerjee Surajit , Loeuille Guy-Andre , Zarkower David , Aihara Hideki , Bardwell Vivian , McElreavey Ken , Bashamboo Anu

Background: DMRT transcription factors are highly conserved regulators of metazoan sexual development. The role of DMRT1 in human primary sex-determination is unclear. Chromosome 9p deletions that remove one copy of DMRT1 are associated with 46,XY feminization and gonadal dysgenesis. While they suggest that DMRT1 is haploinsufficient for testicular development, these deletions usually remove other genes, including DMRT2 and DMRT3. Also, most 9p deletions cause incomplete gonad...

hrp0084p2-195 | Adrenals | ESPE2015

Serum Cortisol and Cortisone Ratio as Sensitive Tool to Identify Subjects With Severe or Partial 11β-Hydroxysteroid Dehydrogenase Type 2 Deficiency

Carvajal Cristian , Iturrieta Virginia , Campino Carmen , Valdivia Carolina , Lizama Jaime , Allende Fidel , Solari Sandra , Baudrand Rene , Lagos Carlos , Vecchiola Andrea , Martinez-Aguayo Alejandro , Garcia Hernan , Fardella Carlos

Background: Severe deficiency of 11β-hydroxysteroid dehydrogenase type 2 (11βHSD2) triggers activation of mineralocorticoid receptor (MR) by cortisol and causing apparent mineralocorticoid excess (AME) syndrome characterized mostly by low-renin arterial hypertension and hypokalemia. In 2003, we studied a patient with AME (3 years-old) having two homozygous mutation, D223N (rs121917833) and a SNP C>T in intron 3 (rs376023420) (Carvajal et al. JCEM 2003).<p cla...

hrp0084p3-662 | Bone | ESPE2015

Seasonal Differences in Plasma 25-OH Vitamin D Concentrations in Cord Blood

Gomez Sandra Ortigosa , Varo Cristina Manzano , Algar Oscar Garcia , Sierra Antonio Mur , Costa Roser Ferrer , Lezcano Antonio Carrascosa , Fernandez Diego Yeste

Background: 25-OH vitamin D levels in newborns depend directly on their mother’s status. In a previous study, 25-OH vitamin D levels were determined in cord blood in a cohort of women after winter months, showing deficient values in 94% of population (mean 25-OH vitamin D value 10.4±6.1 ng/ml). Correlation between low 25-OH vitamin D levels and low sun exposure, dark skin phototype and Indo-Pakistani ethnicity were observed.Objective and hypoth...

hrp0095fc5.5 | Adrenals and HPA Axis | ESPE2022

Influence of prenatal environment and genetic background on glucocorticoid steroid metabolism in monozygotic twins with intra-twin birthweight-differences

Schulte Sandra , Schreiner Felix , Plamper Michaela , Kasner Charlotte , Gruenewald Mathias , Bartmann Bartmann Peter , Fimmers Rolf , Hartmann Michaela F. , Wudy Stefan A. , Woelfle Joachim , Gohlke Bettina

Preliminary results:Objective: Although low birthweight (bw) and unfavourable intrauterine conditions have been associated with metabolic sequelae in later life, little is known about their impact on steroid metabolism. We studied genetically identical twins with intra-twin bw-differences from birth to adolescence to analyse the long-term impact of bw on steroid metabolism.Methods:...

hrp0095p2-215 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Congenital Hypopituitarism and Diabetes Insipidus with Normal Radiological Pituitary Gland and a Mutation in IRF2BPL.

Jesús Dabad Moreno María , Ruiz Cano Rafael , Carmen Carrascosa-Romero María , Cerdán Oncala Sandra , Belén Delgado García Ana , De las Heras Gómez Lucía

Background: Congenital hypopituitarism (CH) is a group of disorders characterized by deficiencies in one or more hypophyseal hormones and a marked variability in genotype-phenotype correlations. Central diabetes insipidus (DI) is caused by a decreased release of ADH and results in a variable degree of polyuria. Their association is normally found in congenital cerebral midline abnormalities, such as septo-optic dysplasia.Objectiv...

hrp0094con2.1 | Should children with isolated idiopathic GHD be retested in early/mid-puberty, rather than wait until adult height is achieved? | ESPE2021

Should children with isolated idiopathic GHD (IIGHD) be retested in early/mid-puberty, rather than wait until adult height is achieved? (PRO)

Loche Sandro ,

More than 60% of patients with IIGHD have normal GH responses to stimulation when retested at the end of growth, and more than 40 % when retested between one year from the start of treatment and mid puberty. This is probably due to the poor diagnostic accuracy of GH stimulation tests and IGF-I measurement. These are strong arguments in favour of early retesting to avoid the burden, cost and potential side effects of unnecessary treatment. There should be no risk of early termi...

hrp0092p1-240 | Multisystem Endocrine Disorders | ESPE2019

Association of Tuberous Sclerosis Complex (TSC) and Insulinoma in a Pediatric Patient

Saredo Ana Tangari , Flores Adriana , Giaccaglia Silvia , Parias Rodrigo , Jorro Facundo , Dadvison Brenda , Gonzalez Javiera , Bastianello Maria , Korman Luciano , Bielsky Laila , Sol Bupo , Bujan Maria Marta , Burdet Sofia , Sandra Tilitzky

Introduction: Tuberous sclerosis complex (TSC) is an autosomal dominant condition caused by a loss-of-function mutation in tumor suppressor genes TSC1/TSC2 which are involved in the inhibition of mTOR signaling implicated in cell proliferation. Major clinical features includes cardiac rhabdomyomas, renal cysts, epilepsy associated to cerebral dysplasia evidenced by cortical tubers and skin manifestation as: angiofibromas, fibrous plaques and the Shagreen patch...