J Med Assoc Thai 2002 Aug;85 Suppl 2:S496-505

Ambiguous genitalia: an overview of 22 years experience and the
diagnostic approach in the Pediatric Department, Siriraj Hospital.

Nimkarn S, Likitmaskul S, Sangacharoenkit P, Pathomvanich A,
Sawathiparnich P, Wacharasindhu S, Punnakanta L, Angsusingha K,
Tuchinda C.

Department of Pediatrics, Faculty of Medicine Siriraj Hospital,
Mahidol University, Bangkok, Thailand.

The newborn with abnormal genital development presents a difficult
diagnostic and treatment challenge for the pediatrician providing
care. It is important that a definitive diagnosis be determined as
quickly as possible so that the appropriate treatment plan can be
established to minimize medical, psychological and social
complications. The purpose of this study was to provide an extensive
review of the clinical characteristics of a patient cohort with
ambiguous genitalia, from 22 years' experience in the Division of
Endocrinology and Metabolism, Department of Pediatrics, Siriraj
Hospital, and to classify them into diagnostic categories. Moreover,
a cascade of diagnostic tools in approaching sexual ambiguity in the
authors' institution, starting with history and physical examination
and leading to further radiographic and laboratory investigations is
demonstrated and can be adopted as a guideline for the clinical
management of these disorders. From 1979 to 2001, care was provided
to a total of 109 patients with ambiguous genitalia, of whom 104
patients were reviewed. Among these individuals, 52 patients (50.0%)
belonged to the diagnosis of female pseudohermaphroditism, 5 patients
(4.8%) were in the true hermaphroditism group and the remaining 47
patients (45.2%) were in the male pseudohermaphroditism group. All
female pseudohermaphrodites carried a diagnosis of congenital adrenal
hyperplasia (CAH) and were reared as girls. 21 hydroxylase deficiency
CAH accounted for all except one (98%) in this group. Among the 47
male pseudohermaphrodites, 9 (19.1%) had dysgenetic male
pseudohermaphroditism, 7 (14.9%) had either testosterone biosynthetic
defects or hCG unresponsiveness, 22 (46.8%) had either androgen
insensitivity syndrome or 5 alpha-reductase deficiency, 4 (8.5%) had
ambiguous genitalia in a 46,XY male associated with multiple
anomalies and 5 (10.6%) had an unidentifiable cause. Sex reassignment
occurred, not uncommonly, in 4 cases of female pseudohermaphrodites
(7.7%) and at least 2 cases (3.9%) in the combined group of male
pseudohermaphrodites and true hermaphrodites. The scope of the
ambiguous genitalia problem is definitely not minor. An inappropriate
approach to this problem poses an undue risk to the integrity of the
physical and psychosexual health in the future for these children.

PMID: 12403225 [PubMed - indexed for MEDLINE]

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?
cmd=Retrieve&db=PubMed&list_uids=12403225&dopt=Abstract