ESPE Abstracts

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...

Background: Neuroendocrine tumors from adrenal and extra-adrenal chromaffin cells are characterized by overproduction of catecholamines (CA), leading to the increase of urinary O-methylated metabolites (uO-Met) excretion, reliable biomarkers for the initial screening, diagnosis and monitoring of patients with pheochromocytoma and paragangliomas (PPGLs).Objective: To develop and validate a UHPLC-MS/MS method for the simul...

In a retrospective study (1), we found that a GH<6.5 μg/L, IGF-I-WHO87/518 <30 μg/L and IGFBP-3<0.8 μg/mL confirmed GHD diagnosis with high diagnostic accuracy in neonates with clinical suspicion of GHD. GH and insulin negatively regulate IGFBP-2, and it was proposed to reflect GH status in the diagnostic work-out of GHD in childhood and adults. The accuracy of IGFBP-2 has not been set for neonates.Objective: To prospectively v...

Background: TSH cut-off (CO) levels has been lowered progressively in many screening programs. Nevertheless, population detected with lower CO levels differs in severity and etiology.Objective and hypotheses: To describe the etiological characteristics and severity of children detected by neonatal screening related to CO TSH levels.Method: We analysed the data of congenital hypothyroidism (CH) neonatal screening performed between J...

Central precocious puberty (CPP) is effectively treated by inhibition of GnRH signaling through GnRH receptor desensitization with depot GnRH agonists (dGnRHa), but the first injection is associated with a surge in LH and FSH (flare) that proportionally increases estradiol levels. When estradiol levels drop, usually within a fortnight, vaginal bleeding may be seen in a small number of girls. Although dGnRHa that use higher, longer-acting doses are increasingly being used in gi...

Background: Central precocious puberty (CPP) is uncommon before the age of 4 and treatment with GnRH analogues have shown unequivocal benefits. CPP during or near mini puberty entails differential clinical and biochemical features in the diagnosis and leads to longer treatment and follow-up. There are very limited studies with long-term outcomes about CPP girls exclusively < 4 years of age regarding growth, menarche, and adult height after GnRHa withdrawal....

Introduction: Prader Willi Syndrome (PWS) is a genetic disorder caused by the lack of expression of paternally inherited genes in chromosome 15q11-q13 region. Central adrenal insufficiency (CAI) has been described but its prevalence is unknown.Aim: to assess central adrenal function in a group of prepuberal PWS patients suspected of CAI.Methods: PWS patients with confirmed molecula...

Background: Pituitary stalk interruption syndrome (PSIS) is characterized by the absence of the pituitary stalk, pituitary hypoplasia and an ectopic posterior pituitary.Objective: We aimed to retrospectively analyze the clinical, auxological, biochemical, and radiological findings in Spanish patients with PSIS.Patients and results: Of 27 patients, 25% were female and 75% male. Perinatal features, auxological and endocrine study at ...