Ambiguous Genitalia : An Overview of 22 Years Expe
rience and the Diagnostic Approach in the Pediatric
Department, Siriraj Hospitalt
SAROJ NIMKARN, M.D., FAAP.*, SUPAWADEE LIKITMASKUL, M.D.*,
PREEDA SANGACHAROENKIT, M.D.*, ANUTTARA PATHOMVANICH,M.D.*,
PAIRUNYAR SAWATHIPARNICH, M.D.*, SUTTHIPONG W ACHARASINDHU, M.D.*,
LUEPHORN PUNNAKANTA, M.D.*, KITTI ANGSUSINGHA, M.D.*,
*CHANIKA TUCHINDA, M.D., FAAP.
Affiliation : * Division of Pediatric Endocrinology and Metabolism, Department of Pediatrics, Faculty of Medicine Siriraj Hospital,
Mahidol University, Bangkok 10700, Thailand.
t This study was partially supported by the Grant for Research Development, Faculty of Medicine Siriraj Hospital.
AbstractThe newborn with abnormal genital development presents a difficult diagnostic and treat
ment 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 pseudo
hermaphroditism, 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 hydro
xylase 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 insen
sitivity syndrome or 5 a-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 pro
blem poses an undue risk to the integrity of the physical and psychosexual health in the future for
these children.
Keywords : Ambiguity, Female Pseudohermaphroditism, Male Pseudohermaphroditism, True Herma
phroditism, Congenital Adrenal Hyperplasia, Gonadal Dysgenesis, Human Chorionic
Gonadotrophin, Outcome Management, MUllerian Structure
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