Case Report of Congenital giant melanocytic nevus with ambiguous genitalia in an day neonate in Ardabil Buali hospital,2018

مقدمه: Congenital melanocytic nevi may be common, quite extensive and even benign, but giant congenital nevus is rare and has potential for malignant transformation• معرفی بیمار: We report one day neonate with giant melanocytic nevus and ambiguous genitalia.The mother was 25-year-old;never smoked cigarette or drank alcohol,she was hermaphrodysm with XX karyotype. Neonate was delivered with C/S. On physical examination, the hyperpigmented skin lesions involved the abdomen and foots; The external genitalia was ambiguous, with no penile shaft but had one testis in right scrotom and clitoris structure with stretch length of cm and diameter of mm, two pigmented and thickened labioscrotal folds with posterior fusion and palpable gonad in the right fold. The urethral opening was ventral with split on the ventral surface of the shaft extending from the region of the labioscrotal fold to the tip of the clitoral. The neonate had normal height, weight and occipitofrontal circumference for age. The abdominal and pelvic ultrasound showed uterus(17*7 mm) and right testis(16*30) was seen.serum level of DHET hormone was 902.9, 17OH progesterone:15.3 testosterone:1.45, cortisol:5.6 and ACTH was 47.4.in echocardiography had PDA and start ibuprofen. Similarly, the serum cortisol level was normal. The skin histology report confirmed the melanocytes extending well into the dermis; the other lab tests were normal the serum electrolytes were normal; and also had normal brain computed tomography scan study.The karyotype was XX. بحث نتیجه گیری:Giant nevus could occur in any part of the body; though, it is most common on the trunk and may be associated with other congenital malformations such as spina bifida, meningocele. However, its rare in combination with ambiguous genitalia. We report case of day neonate with giant melanocytic nevus ambiguous genital with XX karyotype

کلیدواژه ها:

melanocytic ، nevus ، ambiguous ، genitalia ، neonate