ESPE Abstracts

Background: Allgrove sydrome (triple A, 4 A syndrome) is a rare autosomal recessive disorder, characterized by the triad of ACTH resistant adrenal insufficiency, alacrima and achalasia. In addition many patients show progressive neurologic impairment such as progressive paripheral polyneuropathy, hyperreflexia, nasal speech and disautonomia. It is now known that mutations of the ADRACALIN (AAAS) gene on the 12q13, that encodes the protein ALADIN, are responsible for the clinic...

Introduction: The combination Down/Klinefelter syndrome was first described in 1959 by Ford. Its frequency is 0.4-0.9 / 10,000 newborn boys.Case presentation: A boy aged 5 y 4 m, born from a 2nd high-risk pregnancy (mother aged 44 with 1st pregnancy resulting in spontaneous abortion at 12 gestational weeks and with twice-established anemic syndrome) with (+) biochemical screening for Down syndrome. Birth was given via pl...

Introduction: Secondary hyperparathyroidism is a serious and expected complication in almost every patient with chronic kidney disease (CKD). Nevertheless brown tumors formed by osteoclasts are rarely found in this subtype of patients and are extremely rare in children with CKD. The most common localizations of brown tumors are the jaw and long bones. We aimed to present three clinical cases of brown tumors in children with CKD on hemodialysis observed in a single dialysis cen...

The CYP21A2 and the TNXB genes are highly homologous with their corresponding pseudogenes (CYP21A1P and TNXA), leading to frequent homologous recombination. The TNXB includes 43 exons, the mRNA encodes tenascin-X (TNX), an extracellular matrix glycoprotein, highly expressed in connective tissue.CAH patients with a "contiguous gene syndrome" comprising a deletion of both genes- CYP21A2 and TNXB have been described. Chimeric genes generated by larg...

Background: Hyperinsulinemic hypoglycemia is a heterogeneous condition characterized by inappropriate insulin secretion in the presence of low blood glucose levels. It can have various causes, including genetic, metabolic, syndromic, autoimmune, insulinoma, non-insulinoma pancreatogenous hypoglycemia or non-islet cell tumor hypoglycemia. On the other hand, oculofaciocardiodental syndrome is a rare X-linked dominant condition characterized by multiple congenita...

Background: The decreased immune tolerance caused by mutations of the autoimmune regulatory gene (AIRE) lead to a spectrum of variable organ specific autoimmune disorders known as autoimmune polyglandular syndrome type 1 (APS-1). The rarity of the syndrome and the heterogenous clinical manifestations at the onset of the disease may delay the diagnosis. Only when two major components of the triad chronic mucocutaneous candidiasis – hypoparathyroidism &nda...

Pulmonary carcinoid tumors represent well-differentiated pulmonary neuroendocrine tumors, which include typical and atypical carcinoids. This type of lung tumors is rare, but represents the most common primary malignant lung tumor in children and adolescents, especially the typical carcinoids. They can be asymptomatic at the time of diagnosis or can present with nonspecific findings like recurrent pneumonia, cough, and hemoptysis. We report the case of a 15-year-old girl reffe...

Background: Mixed gonadal dysgenesis (MGD) is a disorder of sex development associated with a numerical sex chromosome abnormality. Reported genital phenotypes range from female external genitalia or mild clitoromegaly through all stages of ambiguous genitalia to hypospadias or a normal penis, depending on the proportion of monosomic cells.Case presentation: 18 years old girl, with a history of hypertension, ventricular septal defect and obesity presente...

Central diabetes insipidus (CDI) at neonatal age may occur in the setting of intracranial abnormalities that affect the hypothalamus-pituitary system. These conditions are characterized by defective production, transport or secretion of antidiuretic hormone (ADH). This results in inappropriately low ADH levels in the setting of increased plasma osmolality. We present the case of an infant born by C-section at 38 weeks of gestation, with bilateral cheilognatopalatoschisis, naso...

Hyperinsulinemic hypoglycemia (HH) is common in newborns. If hypoglycemia occurs after the first 48 hours following birth, it may be a sign of an underlying condition. We present the case of a baby girl born at 38 weeks of pregnancy, with good adaptation to extrauterine life and blood glucose of 60 mg/dl in the first days of birth. Approximately 2 days after discharge, she was addressed at the emergency unit because of food refusal for approximately 30 hours, with a blood suga...