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J Clin Endocrinol Metab. 2005 Sep;90(9):5295-303. Epub 2005 Jul 5.

Morphological and immunohistochemical differences between gonadal maturation delay and early germ cell neoplasia in patients with undervirilization syndromes.

Author information

1
Department of Pathology, Erasmus MC, University Medical Center Rotterdam, Josephine Nefkens Institute, Room 430b, P.O. Box 1738, 3000 DR Rotterdam, The Netherlands.

Abstract

CONTEXT:

Maturation delay of germ cells and their progression into carcinoma in situ (CIS) frequently occurs in intersex patients. A developmentally delayed germ cell resembles a CIS cell and displays prolonged expression of immunohistochemical markers used for the diagnosis of CIS. This questions their applicability in young children.

OBJECTIVE:

The objective of the study was the elaboration of tools to distinguish germ cells with maturation delay and CIS.

DESIGN:

The design was a qualitative and quantitative analysis of the expression of diagnostic markers for CIS in gonads of young patients with undervirilization syndromes.

SETTING:

The study was conducted in the pathology department of a university center, specializing in germ cell tumor pathogenesis.

PATIENTS:

Fifty-eight formalin-fixed, paraffin-embedded testicular tissue samples of 30 undervirilized patients (1 month to 23 yr of age) were analyzed.

INTERVENTIONS:

INTERVENTIONS included hematoxylin-eosin staining, immunohistochemistry for octamer binding transcription factor (OCT)3/4, gene encoding the stem cell factor receptor that has tyrosine kinase activity c-KIT, placental/germ alkaline phosphatase (PLAP), testis-specific protein Y encoded (TSPY), and VASA, double staining for OCT3/4 and VASA, with ploidy determination by fluorescent in situ hybridization.

MAIN OUTCOME MEASURE:

Maturation delay and CIS are characterized by the staining patterns of the immunohistochemical markers.

RESULTS:

CIS was diagnosed in three of 30 patients (10%) and four of 58 gonads (6.9%). Patient age, distribution of OCT3/4-positive cells throughout the gonad, and their position within the seminiferous tubule differ between maturation delay and CIS. Abnormal OCT3/4 and testis-specific protein Y encoded expression appear to be of pathogenetic relevance in the development of these lesions.

CONCLUSION:

The dimorphic expression of OCT3/4 allows distinction between maturation delay and CIS. Studies in larger patient series are essential before a biopsy to evaluate the neoplastic risk can eventually be proposed as an alternative for gonadectomy.

PMID:
15998778
DOI:
10.1210/jc.2005-0139
[Indexed for MEDLINE]

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