| Author/Editor | Zdravković, Dragan; Milenković, Tatjana; Sedlecki, Katarina; Guć-Šćekić, Marija; Rajić, Vladan; Baničević, Miloš | |
| Title | Vzorci dvopolnog izgleda spoljašnih genitalija kod novorođenčadi | |
| Translated title | Causes of ambiguous external genitalia in neonates | |
| Type | članek | |
| Source | Srp Arh Celok Lek | |
| Vol. and No. | Letnik 129, št. 3-4 | |
| Publication year | 2001 | |
| Volume | str. 57-60 | |
| Language | ser | |
| Abstract | Introducrion: The classification of disorders such as ambiguous genitalia in newborns is difficult because similar or identical phenotypes could have several different aetiologies. In most cases it was impossible to correlate the aetiology of the disorder and the appearance of the external genitalia [1-3]. A newborn with ambiguous genitalia needs prompt evaluation that will permit gender assignment and detection of life-threatening conditions (salt-losing crisis due to congenital adrenal hyperplasia or Wilms' tumour). We studied the causes and characteristics of ambiguous genitalia in newborn infants over the period from 1990 to 1999. Patients and methods: The following genital phenotypes are considered as ambiguous: 1. Hypospadias with no palpable gonads; 2. Hypospadias with micropenis and no palpable gonads or one palpable gonad; 3. Newborn with female external genitalia and a gonadal mass in labia or labial fusion and/or clitoral enlargement [1, 4]. The diagnostic evaluation of newborns with ambiguous genitalia consisted of history and physical examination, determination of serum electrolytes, plasma 17-hydroxyprogesterone (17-OHP), chromosome analysis on cultured lymphocytes, sonogram of the abdomen in connection with a genitogram; and whenever it was necessary, basal plasma concentrations of testosterone and, after the stimulation with human chorionic gonadotropin (hCG), laparotomy for definitive determination of gonadal histology. All disorders with ambiguous genitalia have been classified in four groups: [6]: 1. Female pseudohermaphroditism (FPH); 2. Male pseudoherma phroditism (MPH); 3. True hermaphroditism (TH); 4. Asymmetrical gonadal dysgenesis (ASGD). Results:The causes of sexual differentiation disorders in a group of 38 newborns with ambiguous genitalia are presented in Table 1. (Abstract truncated at 2000 characters) | |
| Descriptors | HERMAPHRODITISM HYPOSPADIAS PHENOTYPE KARYOTYPING PSEUDOHERMAPHRODITISM GONADAL DYSGENESIS ADRENAL HYPERPLASIA, CONGENITAL NEPHROBLASTOMA 17-HYDROXYPROGESTERONE TESTOSTERONE INFANT, NEWBORN |