Intratubular germ cell neoplasia in a man with ambiguous genitalia, 45,X/46,XY mosaic karyotype, and Y chromosome microdeletions

Authors: Papanikolaou, Athanasios¹; Goulis, Dimitrios²; Giannouli, Chariklia¹; Gounioti, Christina¹; Bontis, John¹; Papadimas, John¹

Source: Endocrine Pathology, Volume 14, Number 2, June 2003 , pp. 177-182(6)

Publisher: Humana Press

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Abstract:

We report the case of a 17-yr-old male with ambiguous genitalia, 45,X/46,XY mosaic karyotype, and Y chromosome microdeletions. The patient underwent a testicular biopsy at the age of 6 with normal findings. A second biopsy at the age of 17 established the diagnosis of intratubular germ cell neoplasia (ITGCN), which was treated with bilateral orchidectomy. This case report deals with three important issues regarding ITGCN: First, although a prepubertal biopsy can be performed in order to provide evidence for future fertility, it is very unreliable for making a diagnosis of ITGCN. Second, because ITGCN tends to be a generalized procedure that affects both testes in a uniform pattern, a small number of biopsies, even a single one, could be adequate for diagnostic purposes in the majority of cases. Third, although the population that requires screening for ITGCN remains controversial, the early postpubertal period could be the optimum time for a testicular biopsy.

Keywords: Intratubular germ cell neoplasia; placental alkaline phosphatase; 45,X/46,XY karyotype; Y chromosome microdeletions

Document Type: Research article

DOI: http://dx.doi.org/10.1385/EP:14:2:177

Affiliations: 1: Reproductive Endocrinology Unit, 1st Department of Obstetrics & Gynecology, Hippocration General Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece, 2: Reproductive Endocrinology Unit, 1st Department of Obstetrics & Gynecology, Hippocration General Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece, Email: dgg30@otenet.gr

Publication date: 2003-06-01