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...