hrp0089p3-p102 | Diabetes & Insulin P3 | ESPE2018

When Type Mody Ii Diabetes Simulates Type I Diabetes

Viseras Irene Pilar Fernandez , Mata Maria Angeles Santos , Barea Isabel Torres , Gonzalez Luis Castano

Introduction: Mutations of the GKN gene are the most common cause of Mody diabetes. MODY II typically results in mildly elevated fasting blood sugar, without noticeable diabetes, maintaining good metabolic control without treatment.Clinical case: A 4.5 years old female infant, was referred due to presenting polyuria, polydipsia and fasting hyperglycemia of 126–130 mg/dl and 2 hours post-intake blood glucose level of 150–220 mg/dl. She was born ...

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., ...

hrp0082p2-d2-380 | Fat Metabolism & Obesity (1) | ESPE2014

A New Case of Proopiomelanocortin Deficiency

Fuentes-Bolanos Noemi Auxiliadora , Madueno Francisco Jose Tinahones , Gonzalez Luis Castano , Gea Isabel Leiva , Ollero Maria Jose Martinez-Aedo , Lopez-Siguero Juan Pedro

Introduction: The proopiomelanocortin is a polypeptide of many biologically active peptides involved in many key functions which have not yet been clarified. The mutation in the gene encoding this polypeptide is associated with a clinical trials characterized by early-onset obesity, terciary adrenal insufficiency, and alteration of pigmentation. Eight cases with known genetic mutation have been published.Case report: Newborn male 27 days old from North A...

hrp0082p3-d2-685 | Bone (1) | ESPE2014

Autosomal-Dominant Hypocalcaemia, New Clinical Features

Gea Isabel Leiva , Fuentes-Bolanos Noemi Auxiliadora , Munoz-Garach Araceli , Gonzalez Luis Castano , Ollero Maria Jose Martinez-Aedo , Lopez-Siguero Juan Pedro

Introduction: The extracellular calcium-sensing receptor (CaSR) enables the parathyroid glands and other CaSR-expressing cells involved in calcium homeostasis to sense alterations in calcium serum concentrations. Mutations in the CASR gene may produce gain or loss in its activity. Activating mutations cause a hypocalcaemic syndrome of varying severity, as autosomal-dominant hypocalcaemia or Bartter’s syndrome.Case report: We describe a 6 months infa...