hrp0084p2-481 | Growth | ESPE2015

Klinefelter Syndrome with Short Stature and Microcephaly: An Unusual Combination

Galo Blanca Lidia , Vargas Natalia , Clemente Maria , Vendrell Teresa , Plaja Alberto , Yeste Diego

Background: Patients with Klinefelter syndrome (SK) have a 47, XXY karyotype and tall stature as a result of overexpression of the SHOX gene. The case of a patient with peculiar phenotype, microcephaly, proportional short stature and 47, XXY karyotype with a deletion in band p11.3 of one X chromosome is presented.Clinical description: A 2-year, 4 month-old boy was referred for study of growth retardation. The product of a first gestation of 39 weeks of h...

hrp0084p2-505 | Perinatal | ESPE2015

Evaluation of Thyroid Function in Preterm Newborns of 24–30 Weeks of Gestation

Ariadna Campos-Martorell , Maria Clemente , Diego Yeste , Felix Castillo , Maria Narvaez Karla , Antonio Carrascosa

Background: Preterm newborns due to their immaturity, a higher incidence of mortality and increased susceptibility to iodine, are at risk of decreased thyroid function. Low levels of thyroid hormones during a critical period for the development of the central nervous system may negatively affect their psychomotor development. Screening for congenital hypothyroidism with capillary TSH is invalid for preterm babies and would require an specific thyroid function control.<p cl...

hrp0084p3-1030 | Growth | ESPE2015

Sitting Height/Height Ratio: An Indicator for Genetic Study of the SHOX Gene in Children with Disharmonic Short Stature – An In-House Analysis

Yeste Diego , Dominguez Mildred , Campos Ariadna , Clemente Maria , Fernandez Paula , Plaja Alberto , Carrascosa Antonio

Background: Gene SHOX haploinsufficiency due to deletions or mutations in heterozygosis causes a wide spectrum of phenotypes ranging from very severe disharmonic short stature (S. Léri-Weil, S. Turner) to very mild forms with the appearance of idiopathic short stature (IST) of difficult clinical recognition. Auxological study directed at evaluating body disproportions such as the sitting height/height (SH/H) ratio in patients with IST has been postulated as usefu...

hrp0084p3-1041 | Growth | ESPE2015

Patient with Classic Phenotype of Hypochondroplasia and Deletion of the Gene SHOX

Dominguez Mildred , Amoretti Sonia , Ropero Esther , Campos Ariadna , Clemente Maria , Yeste Diego , Fernandez Paula

Background: Hypochondroplasia is an osteochondrodysplasia inherited in an autosomal dominant pattern that results in a disproportionately short stature, characteristic facial features and skeletal alterations such as lordosis and genu valgum. Haploinsufficiency of the fibroblast growth factor receptor 3 gene (FGFR3) is responsible for 50–70% of the cases, but a negative result doesn’t rule it out.Case presentation: We report a...

hrp0094p2-129 | Diabetes and insulin | ESPE2021

Evaluation of continuous glucose monitoring for the diagnosis of cystic fibrosis related diabetes (CFRD). A prospective and longitudinal study

Yesquen Pamela , Campos Ariadna , Mogas Eduard , Gartner Silvia , Yeste Diego , Clemente Maria ,

Introduction: Continuous-glucose monitoring (CGM) is becoming a useful tool to evaluate glucose profiles in real-life conditions and to detect glucose abnormalities undetected by OGTT in CF patients.Objectives: • Evaluation of OGTT and CGM results longitudinally • Evaluation of BMI z-score and %FEV1 changes in relation to OGTT and CGM results. • Analysis of 6 proposed criteria to classify glucose abnormali...

hrp0082p1-d3-197 | Pituitary | ESPE2014

Congenital Nasal Pyriform Aperture Stenosis and Pituitary Abnormalities: Case Series of 20 Patients and a Management Guideline for Early Identification of Pituitary Insufficiency

Chen Suet Ching , McDevitt Helen , Clement W Andrew , Wynne David M , Mason Avril , Donaldson Malcolm , Ahmed S Faisal , Shaikh M Guftar

Introduction: Congenital nasal pyriform aperture stenosis (CNPAS) is an increasingly recognised cause of upper airway obstruction associated with holoprosencephaly, of which solitary median maxillary central incisor (SMMCI) is the least severe form. Studies have described pituitary abnormalities in up to 40%. We aimed to determine the use of baseline endocrine investigations and MRI brain in assessing endocrine dysfunction.Method: Retrospective casenote ...

hrp0092p2-164 | GH and IGFs | ESPE2019

Brain Magnetic Resonance Imaging in Children with Isolated Growth Hormone Deficiency and Idiopathic Short Stature Diagnoses

Yesquen Pamela , Clemente María , Campos Ariadna , Mogas Eduard , Vázquez Élida , Carrascosa Antonio , Yeste Diego

Introduction: Diagnosis of growth hormone deficiency (GHD) and idiopathic short stature (ISS) is not straightforward. Nowadays growth hormone (GH) stimulation tests play a key role in the diagnosis but they are controversial due to the lack of normative data, poor reproducibility and poor disease concordance.The magnetic resonance imaging (MRI) is also a tool in the study of patients with short stature. Structural alterations of the hypo...

hrp0082p3-d3-651 | Autoimmune Endocrine Disease | ESPE2014

Diabetes Mellitus after Hematopoietic Stem Cell Transplantation

Narvaez Barros Karla Maria , Martorell Ariadna Campos , Leon Maria Clemente , Alvarez Izaskun Elorza , Fernandez Diego Yeste , Lezcano Antonio Carrascosa

Background: Patients who have received an hematopoietic stem cell transplantation (HSCT) have more risk of endocrine complications (hypothyroidism, hypogonadism, and growth retardation) but the incidence of diabetes after HSCT is not as well known. The pathogenesis of the diabetes is not well established, and is believed to be multifactorial: chemotherapy, pancreatic irradiation, inflammatory cascade and cytokines, steroids and predisposing genetic factors.<p class="abstex...

hrp0084p3-1062 | Hypo | ESPE2015

Congenital Hyperinsulinaemic Hypoglycaemia of Infancy, Renal Fanconi Syndrome and Hepatopathy due to a Mutation in the hnf4a Gene

Pieck Alejandro Vargas , Leon Maria Clemente , Martorell Ariana Campos , Gonzalez Luis Castano , Iraola Gema Ariceta , Lezcano Antonio Carrascosa

Introduction: Congenital hyperinsulinaemic hypoglycaemia of infancy (CHHI) associates with mutations in known genes in approximately 60% of cases. CHHI and mutations in HNF4A gene are reported in 0.5–2.4% in large series. A case of CHHI with renal Fanconi syndrome (FS) and hepatopathy is presented.Clinical description: Male newborn, gestational age: 38 weeks, weight: 4250 g +2.7 S.D., length: 55 cm +3.29 S.D., ...

hrp0084p3-1220 | Thyroid | ESPE2015

Transient Hyperthyroidism Associated with a Thyroid Nodule

Pieck Alejandro Vargas , Fernandez Diego Yeste , Pontnou Marta Garrido , Leon Maria Clemente , Martorell Ariadna Campos , Lezcano Antonio Carrascosa

Introduction: Developing an acute onset thyroid nodule is rare in children and usually associates with infectious or neoplastic disease; when linked to hyperthyroidism, the most likely diagnosis is toxic adenoma.Clinical description: 9-year-old boy with no relevant medical history was seen at the emergency department for acute cervical pain and tumor involving the left thyroid lobe with no inflammatory signs or history of trauma. Physical examination rev...