PROLONGED EXPRESSION OF THE c-kit RECEPTOR IN GERM CELLS OF INTERSEX FETAL TESTES

• Published in: The Journal of pathology Vol. 178; no. 2; pp. 166 - 169
• Main Authors: RAJPERT-DE MEYTS, EWA, JØRGENSEN, NIELS, MÜLLER, JØRN, SKAKKEBÆK, NIELS E.
• Format: Journal Article
• Language: English
• Published: Chichester, UK John Wiley & Sons, Ltd 01.02.1996; Wiley
• Subjects: Biological and medical sciences; c-kit; Disorders of Sex Development - embryology; Disorders of Sex Development - metabolism; Gestational Age; gonadal dysgenesis; Gonadal Dysgenesis - embryology; Gonadal Dysgenesis - metabolism; Gynecology. Andrology. Obstetrics; Humans; Immunoenzyme Techniques; Male; Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance; Medical sciences; Mosaicism; Pilot Projects; Proto-Oncogene Proteins c-kit - metabolism; sex differentiation; testicular development; testicular neoplasms; Testicular Neoplasms - embryology; Testis - embryology; Testis - metabolism; Chromosomal aberration; Human; Immunohistochemistry; Dysgenesia; Pathogenesis; Sex chromosome; Testicle; Congenital disease; Genital diseases; Germ cell tumor; Pathology; Intersexuality; Malformation; Gonad; C-Onc gene; Tumor; Fetus; Male genital diseases; Sexual differentiation; Testicular diseases; Protooncogene
• ISSN: 0022-3417; 1096-9896
• DOI: 10.1002/(SICI)1096-9896(199602)178:2<166::AID-PATH436>3.0.CO;2-2

Stem cell factor (SCF) and its receptor Kit encoded by the c‐kit proto‐oncogene are crucial for the development and migration of primordial germ cells in rodents. The expression of Kit has been examined immunohistochemically in gonads obtained from five specimens of fetal tissues with intersex conditions which included 45,X/46,XY mosaicism; androgen insensitivity syndrome; and 46,XY/iso(p)Y mosaicism. Individuals with such disorders of sexual differentiation and Y‐chromosome material carry a very high risk of developing testicular neoplasms. Fetal testicular germ cells of the intersex subjects expressed Kit at a later developmental age than controls, in which no Kit protein was detectable beyond the 15th week of gestation. This finding may indicate a disturbance of the chronology of germ cell development, or it may suggest a change of the regulation of c‐kit expression in subjects with disorders of gonadal development.