ESPE Abstracts

In CAH due to 21-OH deficiency, phenotype-genotype correlation is known. However, the same genetic events may cause different clinical forms of the disease. A case of CAH associated with the P30L in the CYP21A2 gene in presented. The Caucasian girl was born normally and growing healthy till the age of 3.y., when her mother noticed pubic hair growth; at the age of 4 she had acne and an increasing sweating. At 6 y. of age, she was brought to paediatric endocrinologist f...

In CAH due to 21-OH deficiency, GH treatment combined to GC and MC replacement is still considered to be experimental. We present a patient who has benefited from such treatment. A baby girl was born in term with clitoromegaly and manifested with salt loose at neonatal period. Low serum morning cortisol and sodium with high potassium and 17-OH levels were found resulted in the clinical diagnosis of CAH. The karyotype was 46,XX. Prednisolone and DOXA, the only available hormone...