hrp0097p2-93 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Diabetes insipidous and non langerhans histiocitosis, a challenging diagnosis

Polenzani Ilaria , FInamore Martina , Ferri Chiara , Palmoni Monica , Mascaro Rossella , Magnacavallo Annalia , Rizzi Alessia , Barera Graziano , Pozzobon Gabriella , Bucolo Carmen , Meroni Silvia

A 5-years-old boy was admitted because of polydipsia and polyuria. His family history was unremarkable. After water deprivation test (10h), laboratory test showed high levels of serum sodium (150.1 mmol/L), low urine osmolarity (88 mOsm/kg) and high serum osmolarity (301 mOsm/kg) consistent with the diagnosis of central diabetes insipidus (CDI). He started therapy with oral desmopressin with clinical improvement. Brain MRI revealed pituitary stalk thickening (3 mm), no hyperin...

hrp0097p2-255 | Late Breaking | ESPE2023

Phenolic Endocrine Disruptors as Potential Risk Factors for Early Onset Thelarche: Insights from a Population-Based Study

Sol Ventura Paula , Escribano Arantxa , Herrero Xavier , Torrebias Meritxell , Corripio Raquel , Castiello Francesca , Riaño Isolina , Olivas Alicia , Suarez Beatriz , Freire Carmen

The diagnosis of early thelarche is common in Pediatric Endocrinology consultations, with many cases lacking an organic cause. It can either spontaneously resolve, remain stable, or progress to precocious puberty. Early exposure to endocrine-disrupting environmental pollutants (EDs) with estrogenic and/or anti-androgenic effects during pregnancy or childhood may affect the timing of thelarche onset and/or puberty in girls. Further research is needed to better understand the in...

hrp0098p3-123 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2024

GLI2 variant associated with hypopituitarism and midline defects

Lia Magnacavallo Anna , Sterpetti Giulia , Polenzani Ilaria , Mascaro Rossella , Errico Angela , Bucolo Carmen , Laura Carla Meroni Silvia , Barera Graziano , Cinzia Pozzobon Gabriella

Pituitary stalk interruption syndrome (PSIS) can be classified as a form of holoprosencephaly. The sonic hedgehog signaling (SHH) has a key role in central nervous system midline development. GLI2 is a transcription factor of SHH pathway. GLI2 pathogenetic variants show phenotypic variability and nonpenetrance. We present a female patient born at 37+1 weeks of gestation from moroccans non-consanguineous parents. Unicogenic. Polihydramnios, urogenital sinus, palatal and lip cle...

hrp0098p3-220 | Pituitary, Neuroendocrinology and Puberty | ESPE2024

Septo-optic dysplasia and panhypopituitarism: a case report

Lia Magnacavallo Anna , Sterpetti Giulia , Polenzani Ilaria , Mascaro Rossella , Errico Angela , Bucolo Carmen , Laura Carla Meroni Silvia , Barera Graziano , Cinzia Pozzobon Gabriella

Septo-optic dysplasia (SOD) is characterized by optic nerve hypoplasia, hypothalamic-pituitary axis dysfunction and brain’s midline structures defects. His clinical features are heterogeneous. They consist mainly in visual impairments, endocrine dysfunction, cognitive and neurological abnormalities. We present a patient of 6 years old, affected by SOD, central diabetes insipidus, central hypothyroidism and growth hormone deficiency (GHD). She was born at 40+2 gestational...

hrp0098p3-224 | Pituitary, Neuroendocrinology and Puberty | ESPE2024

Delayed diagnosis of congenital hypopituitarism presenting as syndromic obesity

Polenzani Ilaria , Mascaro Rossella , Lia Magnacavallo Anna , Errico Angela , Sterpetti Giulia , Laura Carla Meroni Silvia , Bucolo Carmen , Barera Graziano , Pozzobon Gabriella

Male, aged 6 years 3 months, recently moved from Peru, was admitted for suspected syndromic obesity. His medical history was unremarkable; no documented neonatal hypoglycemia or prolonged jaundice. Independent walking was achieved at 3 years and meaningful words at 2. Physical examination: height 99.2 cm (-3.57 SDS), -2.8 SDS below target height, BMI 27.43 kg/m2 (2.47 SDS); his weight has increased since the age of 4. Peculiar somatic characteristics were observed - saddle nos...

hrp0098p3-225 | Pituitary, Neuroendocrinology and Puberty | ESPE2024

Management challenges in a pediatric somatotropinoma

Polenzani Ilaria , Errico Angela , Mascaro Rossella , Lia Magnacavallo Anna , Sterpetti Giulia , Laura Carla Meroni Silvia , Bucolo Carmen , Barera Graziano , Losa Marco , Pozzobon Gabriella

Female, 7-year-old, presented with a 6-months history of headaches and right ptosis, with a sudden worsening associated with projectile vomiting. Height 141 cm (2.67 SDS), weight 44.35 kg (1.98 SDS). She presented with enlarged hands and feet, diastema, broad nasal bridge, prominent nasal septum, low-set ears and coarse facial features. Brain MRI revealed a 22 × 25 × 40 mm pituitary mass with a suprasellar extension compressing the optic chiasm and invading the cav...

hrp0084p1-165 | Miscelleaneous | ESPE2015

Higher Urinary Iodine Levels Iodine Correlates with Lower Systolic Blood Pressure in Chilean Schoolchildren

Grob Francisca , Martinez-Aguayo Alejandro , Ateaga Maria Clara , Loureiro Carolina , Carrillo Diego , Hill Caroline , Campino Carmen , Mendoza Carolina , Ferrada Clarita , Bancalari Rodrigo , Pinochet Constanza , Carvajal Cristian , Aglony Marlene , Valdivia Carolina , Vecchiola Andrea , Carrasco Carmen , Baudrand Rene , Fuentes Cristobal , Garcia Hernan , Fardella Carlos

Background: Iodine concentrations in Chilean schoolchildren are the highest in South America. This may be related to excessive sodium intake, which is associated with hypertension. However, iodine decreases blood pressure (BP), which would be a cardiovascular protective factor.Objective and hypotheses: The objective of this study is to evaluate the effects of iodine on BP and cardiovascular risk factors, despite salt intake.Method:...

hrp0089p1-p021 | Adrenals and HPA Axis P1 | ESPE2018

Higher Dehydroepiandrosterone Levels in Prepubertal Children Born Very Preterm

Mericq Veronica , Martinez-Aguayo Alejandro , Iniguez German , Poggi Helena , D'Apremont Ivonne , Moore Rosario , Arancibia Monica , Garcia Hernan , Peredo Soledad , Trincado Claudia , Sifaqui Sofia , Ossa Jose Tomas , Fardella Carlos , Carvajal Cristian , Campino Carmen , Baudrand Rene , Solari Sandra , Allende Fidel

Objective: To evaluate the impact of gestational age and birthweight on dehydroepiandrosterone and dehydroepiandrosterone-sulfate (DHEA and DHEA-S) in children born very preterm (VPT) appropriate for gestational age (GA) compared to children born at term (T).Methods: We recorded anthropometric parameters in 72 VPT (<32 GA) and 41 T (≥ 38 GA) aged 5.0–8.5 years. Birthweight standard deviation scores (BW-SDS) were calculated using INTERGROWT...

hrp0089p1-p039 | Bone, Growth Plate &amp; Mineral Metabolism P1 | ESPE2018

3-epi-25 Serum 25-hydroxyvitamin D3 Concentrations in Chilean Children between 5 and 8 Years

Arancibia Monica , Seiltgens Cristian , Poggi Helena , Allende Fidel , Solari Sandra , Peredo Soledad , Trincado Claudia , Garcia Hernan , Moore Rosario , Dapremont Ivonne , Andrade Daniela , Sifaqui Sofia , Ossa Jt , Campino Carmen , Carvajal Cristian , Fardella Carlos , Baudrand Rene , Sanchez Ximena , Martinez-Aguayo Alejandro

Background: The C3 epimer of 25-hydroxi-vitamin D3 (Epi25OHD3) is present in the pediatric and adult population and varies according to age. If it measurement is clinically relevant and should be considered to classify Vitamin D status is still unknown.Objective: To measure 25OHD3, 25-hydroxy-Vitamin D2 (25OHD2) and Epi25OHD3 and to compare them with PTH and calcemia.Method: Subjects: Children between 5 and 8 years of age born very...

hrp0089p1-p067 | Diabetes &amp; Insulin P1 | ESPE2018

Insulin Resistance Parameters in Children Who Were Born Very Preterm and Adequate for Gestational Age

Garcia Hernan , Poggi Helena , Arancibia Monica , Peredo Soledad , Trincado Claudia , Moore Rosario , D'Apremont Ivonne , Andrade Daniela , Sifaqui Sofia , Ossa JT , Campino Carmen , Carvajal Cristian , Fardella Carlos , Baudrand Rene , Solari Sandra , Allende Fidel , Martinez-Aguayo Alejandro

Background: Very preterm neonates are at risk for metabolic syndrome later in life. Our objective was to compare anthropometric measures and insulin resistance variables between children who were born very preterm (VPT, <32 gestational weeks) and term (T, >37 gestational weeks), and adequate for gestational age (AGA).Methods: In this cross-sectional cohort study we recruited 113 children 5.0 to 8.5 years old from the preterm clinic of our institu...