ESPE Abstracts

Patient 10 years old, female, since 8 years old of excessive weight gain, facial changes, hirsutism, violaceous striae on trunk, abdomen and legs, acanthosis nigricans, dorsal cervical fat pad, muscle weakness and sleep disturbances. Menarche at 9 years old. Weight 110.4 kg, height 141.6 cm (+0.08 SD), BMI 55.1 (+4.67 SD). Initial study HBA1C 5.17%, glycemia 86 mg/dl DHEAS110 ug/dl, Total testosterone 39.19 ng/dl, SHBG10nmol/l, FAI 3.09, Androstenedione 2.5 ng/ml, 17 hydroxipr...

Case presentation: We present the case of a 6-year-old female patient with history of congenital salt-wasting adrenal hyperplasia (CAH) under treatment with hydrocortisone and fludrocortisone, who during the study of her urogenital sinus shows bilateral medullary nephrocalcinosis (NC) in the urethrocystography. The patient was born with a disorder of sex development, with apparently male genitalia, with a phallus and labioscrotal folds. Her karyotype is 46XX, ...

We report three cases of patients with pancreatitis that developed diabetes mellitus (DM). Case 1: 8,9 years old female, treated with valproic acid (VPA) for epilepsy. Who is admitted with 5 days of abdominal pain, vomiting and altered state of consciousness, in the ER the patient was dehydrated and initial labs showed glycemia of 423 mg/dl. She was admitted to the ICU, further studiesResults: amylase 502 U/L, lipase 1491 U/L, HbA1c 5.4%...

Case presentation: We report two cases of patients with Cystic fibrosis-related diabetes (CFRD) Patient 1. At 5 years of age, a genetic diagnosis of cystic fibrosis with homozygous delta F508 variant was made in relation to a brother diagnosed in the newborn period. At 12 years old FEV1 91%. Initial screening at age 14 with impaired fasting glucosa and HbA1c of 5.9%; She was overweight and had acanthosis. Hospitalizations for recurrent pneumonia. At 17 years o...

Introduction: IPEX syndrome is a syndrome characterized by the following triad: immune dysregulation, polyendocrinopathy and X-linked enteropathy. It is produced by a variant in the FOXP3 gene. It is a rare disease with poor prognosis.Clinical case: We are reporting the case of a boy, 2nd child of non-consanguineous parents, normal pregnancy. Born at 39 weeks of gestational age, birth weight 2985 grams and length 49 cent...

Introduction: Hypoglycemia due to Congenital hyperinsulinism is a phenotypically heterogeneous disease. Depending on the cause it is most frequently seen in the neonatal period but it can present later in life, with risk of neurological complications in the event of late diagnoses.Clinical Case: Patient with a normal perinatal history, born at 40 weeks, weight 3600 grams and 50.5 centimeters of length. Because caf&eacute...