ABSTRACT
Ambiguous genitalia is a real problem in Egypt representing 5.5% of total number of endocrine patients in our study. There is a wide variation of the age at presentation. More than one third of our patients presented with adrenal crisis which is the most serious complication of ambiguous genitalia. Management of cases of DSD requires an experienced multidisciplinary team that is usually found in tertiary centers. Gender assignment in cases of DSD is a difficult challenge. Lack of some laboratory investigations or their higher cost as well as unavailability of some genetic analysis in developing countries are important causes of delayed diagnosis in these cases. The aim of the work was to review the clinical characteristics of children with ambiguous genitalia who attended the endocrinology clinic of Alexandria University Children's Hospital between 2002-2009 to categorize them depending on their clinical, laboratory and radiological findings and to study the response to therapy. All the records of children with ambiguous genitalia who attended the endocrinology clinic in Alexandria University Children's Hospital in the period from 2002 to 2009 were reviewed to obtain data from files regarding history, clinical examination, genital examination and grading, laboratory investigations, karyotyping, radiological findings, laparoscopic findings, final diagnosis, management plan, and gender assignment. This study included 77 children with ambiguous genitalia: Clinically, the sex of presentation was 49 females [63.6%], 21 male patients [27.3%], and 7 cases presented with undetermined sex [9.1%] while according to DSD classification, our patients were classified into 46 XX DSD [79.2%],46 XY DSD [19.5%], and Ovotesticular DSD [only one case]. The age of presentation ranged from 0.23-120 months with a mean of 11.07 +/- 20.03 months. Consanguinity among patient's parents was observed in 36.4%. 39% of our patients presented with adrenal crisis, and 5.2% were associated with other congenital anomalies. 3.8% had pubic hair at presentation and only one case had hypertension. In cases of 46 XXDSD, salt-losing type of congenital adrenal hyperplasia [21-Hydroxylase deficiency] was the commonest type representing 78.7%. In cases of 46 XYDSD, the most frequent diagnosis was androgen insensitivity syndrome that was present in 53.3%. Regarding to gender assignment, 48 cases were reared as females [62.3%] and ten cases were reared as males [13%], the same as their initial sex assignment by their families. 14 cases [18.2%] changed their gender from males to females and five cases [6.5%] had changed from female to male. From our study, we concluded that ambiguous genitalia is a real problem in our country representing 5.5% of total number of endocrine patients in our study. Management of cases of DSD requires an experienced multidisciplinary team that is usually found in tertiary centers. Gender assignment in cases of DSD is a difficult challenge. Lack of some laboratory investigations or their higher cost as well as unavailability of some genetic analysis in developing countries may delay and affects the final diagnosis of some cases of ambiguous genitalia