Mixed Gonadal Dysgenesis in a Mosaic 45,X / 46,X+Mar (with +SRY/TPSY/DYZ3 genes): A Rare Case Report

Abstract

Introduction Y chromosome-derived material in Turner´s Syndrome patients is a risk factor for the malignant transformation of the dysgenetic gonad and/or virilization. Small fragments of Y chromosome, can be missed by conventional cytogenetics, so PCR techniques for such markers can aid in the identification. Study Objective To present a rare case of Gonadal Dysgenesis. Design Video case report. Setting Laparoscopic approach and complete genetic and histopathological study. Patients or Participants 14-year-old female patient with primary amenorrhoea complained after 1 year of clitoris enlargement and deepening of the voice. She had short height, low posterior hairline with low set ears, short neck, cubitus valgus and incipient bilateral breast buds. External gynecologic was unremarkable for an enlarged clítoris. Her karyotype was Mos45,X/46,X,+mar. FISH for Y Chromosome was +, and molecular determination through PCR for specific Y chromosome genes SRY, TSPY and DYZ3 were also +. Lab tests: free testosterone 128 ng/dl (normal 15-70 ng/dl), a normal DHEA-S (64 mcg/dl) and androstenodione (0.5ng/ml). Interventions She was counseled for laparoscopic gonadectomy. Measurements and Main Results Uterus was hypoplastic. Her left ovary was a 4 cm cystic appearance opaque smooth mass of unusual appearance for a normal ovary. Her right ovary was an underdeveloped ovarian strip. She was discharged on POD 1 Her biopsy showed normal testicular stroma with seminiferous tubules and hyperplasic Leydig cells on the left gonad and normal ovarian tissue on the right gonad. Conclusion Of all Turner´s Syndrome patients, only a 2-5% will have a mosaic 45,X/46,XY karyotype. Any TS patient with signs of virilization must be investigated for the presence of Y chromosome genes. If SRY or similar genes are present, surgical removal of the dysgenetic gonads must be done in order to treat virilization and prevent malignant transformation. Y chromosome-derived material in Turner´s Syndrome patients is a risk factor for the malignant transformation of the dysgenetic gonad and/or virilization. Small fragments of Y chromosome, can be missed by conventional cytogenetics, so PCR techniques for such markers can aid in the identification. To present a rare case of Gonadal Dysgenesis. Video case report. Laparoscopic approach and complete genetic and histopathological study. 14-year-old female patient with primary amenorrhoea complained after 1 year of clitoris enlargement and deepening of the voice. She had short height, low posterior hairline with low set ears, short neck, cubitus valgus and incipient bilateral breast buds. External gynecologic was unremarkable for an enlarged clítoris. Her karyotype was Mos45,X/46,X,+mar. FISH for Y Chromosome was +, and molecular determination through PCR for specific Y chromosome genes SRY, TSPY and DYZ3 were also +. Lab tests: free testosterone 128 ng/dl (normal 15-70 ng/dl), a normal DHEA-S (64 mcg/dl) and androstenodione (0.5ng/ml). She was counseled for laparoscopic gonadectomy. Uterus was hypoplastic. Her left ovary was a 4 cm cystic appearance opaque smooth mass of unusual appearance for a normal ovary. Her right ovary was an underdeveloped ovarian strip. She was discharged on POD 1 Her biopsy showed normal testicular stroma with seminiferous tubules and hyperplasic Leydig cells on the left gonad and normal ovarian tissue on the right gonad. Of all Turner´s Syndrome patients, only a 2-5% will have a mosaic 45,X/46,XY karyotype. Any TS patient with signs of virilization must be investigated for the presence of Y chromosome genes. If SRY or similar genes are present, surgical removal of the dysgenetic gonads must be done in order to treat virilization and prevent malignant transformation.