abdolhamid amouei

Disorder of sex development (DSD) is one of the most serious problems encountered at birth. DSD is a heterogeneous group of rare conditions wherein chromosomal, gonadal, or anatomical sex is atypical. The aim of this study was to define the classification and etiological distribution of patients presented with ambiguous genitalia
This study was a cross-sectional study conducted in the department of Pediatric and Endocrinology and Surgery at Shahid Sadoughi Hospital in Yazd from March 2016 to March 2020. All patients with genital ambiguity were included in the study with the exception of five patients since they did not have a final diagnosis of ambiguous genitalia.
Out of 50 patients, thirty-one (62 %) patients were diagnosed with 46, XXDSD, fifteen (30%) patients with 46, XYDSD, while four (8%) patients with ovotesticular DSD. Congenital adrenal hyperplasia (CAH) was the common cause in 46, XXDSD with majority due to deficiency of 21 hydroxylase enzyme. Three (6%) patients with 46, XXDSD were diagnosed with genital ambiguity as part of syndrome. Out of patients with 46, XYDSD, CAH observed in two (4%) patients, severe hypospadias in nine (18%) patients and 5-alpha reductase deficiency in two (4%) patients and one (2%) patient with syndrome. Four (8%) patients were diagnosed with ovoteticular DSD.
Our study revealed that 46, XXDSD was the most frequent DSD etiological diagnosis. CAH was the commonest cause in 46, XXDSD and severe hypospadias were the underlying cause of 46, XYDSD.

Lipoblastoma is a rare, benign lesion of adipose tissue that usually occurs in upper and lower limbs. However, lipoblastoma of head and neck, trunk, mediastinum, mesenteric, retroperitoneum, kidneys, and perineal region has been reported to date. In this case report, we introduce lipoblastoma in a 16-month female infant who was referred to the clinic by her parents because of a rapid growing mass in labia major region from 2 months ago. In imaging, an ill-defined lobulated mass with heterogeneous enhancement was found adjacent to the pubis and left inferior ramus that was suggestive of soft tissue sarcoma. The patient underwent incomplete radical vulvectomy. Histopathological study reported "lipoblastoma" as a definite diagnosis. Five-year follow up revealed no recurrence. Although genital lipoblastoma is a rare, benign lesion, it should be differentiated from malignant tumors such as liposarcoma.

Ventriculoperitoneal (VP) shunt placement is the most common procedure used in the treatment of hydrocephalus. However, it has been associated with several complications. Herein, we report penetration of VP shunt into the transverse colon and anal extrusion in a 5-year-old child who was a case of congenital hydrocephalus. The patient underwent laparotomy. The tube was palpated to be in the sigmoid colon. The shunting tube was removed and transverse colon was repaired.