ESPE Abstracts

Background: Steroid 5-Alpha-Reductase-2 deficiency(5-ARD) is a result of mutations in the SRD5A2 gene. It causes disorder of sexual differentiation(DSD) in 46XY individuals with a variable genital phenotype. We present two siblings with a female external genitalia at birth and bilateral inguinal testes, raised as females. These are the first molecularly sharacterized patients from the Republic of Macedonia with a different clinical course due to the time of th...

A PROP1 homozygous mutation was found in an 8 years old boy who was referred for fatigue, general slowness, dry skin, normal weight and slow growth. His T4 and TSH were low, while tests of pituitary reserve were normal as well as the concentrations of ACTH and cortisol. FSH/LH/T/E were in the pre-pubertal range. TRH test resulted in no increased TSH and T4, confirming the pituitary origin of the defect. MRI of the pituitary hypothalamic region revealed an enlargement of the an...

Background: Cystic fibrosis related diabetes (CFRD) is one of the most common complications of CF. CFRD has great impact on progressive deterioration of lung function, poor growth and increased mortality. The need for early detection of disturbance in glucose metabolism was recognized long ago. Current recommendations include screening that begins at age of 10 by performing oral glucose tolerance test (OGTT) but it cannot reveal the initial glucose disturbances. Many centres a...

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases caused by a deficiency of enzymes responsible for the steroidogenesis. The most common cause is 21-hydroxylase deficiency. There are three forms of CAH due to 21-hydroxylase deficiency: the classic form with salt loss, the classic virilizing and the non-classical form. In pediatric age, CAH is most often manifested by masculinization of the genitals of female newborns, adrenal crisis or premature p...

Background: The definition of Cushing disease (CD) is hypercortisolism caused by excess adrenocorticotropic hormone (ACTH) secretion by a pituitary corticotrope adenoma. It is extremely rare in the pediatric population and requires rapid diagnosis and early management.Case presentation: A 14-year old boy was hospitalized because of sudden onset of chest pain, loss of consciousness, elevated cardio-specific enzymes, and s...