A Rare Case of Mixed Gonadal Dysgenesis
Journal Title: Biomedical Journal of Scientific & Technical Research (BJSTR) - Year 2018, Vol 11, Issue 4
Abstract
Mixed gonadal dysgenesis (45X/46XY and its variants) is a form of sex chromosome DSD (disorders of sex development). The clinical presentation of such patients is highly variable and mild variants may go unnoticed. Here we discuss a 13-year-old patient with mixed gonadal dysgenesis (45X/46 XY mosaicism) who was being reared as female, presented to us with virilizing symptoms and signs. The management issues in such patients were discussed.Mixed gonadal dysgenesis (45X/46XY and its variants) is a form of sex chromosome DSD (disorders of sex development). It is one of the most frequent causes of sexual ambiguity. It is a heterogeneous syndrome with a 45,X/46,XY or 46,XY karyotype, persistent müllerian duct structures, a dysgenetic testis, and a contralateral streak gonad. Functionally, the gonads were incompetent. Somatic features of turner syndrome, such as short stature, webbed neck, cubits valgus and gonadal failure may presented in these patient. Because of the presence of Y chromosome patient at risk of gonadal neoplasm, especially gonadoblastoma. So, gonadoectomy are involved. A multidisciplinary team including pediatric, endocrinologist, pediatric surgeon and psychologist should be involved. Indeed, in the ambiguous phenotypes, the decision regarding the assignment of sex must be taken as soon as possible [1-4]. Human chorionic gonadotropin (HCG) stimulation test showed testosterone prestimulation 2.3nmol/L and post stimulation 13.43nmol/L indicating the presence of testicular tissue. LH:7.3IU/L, FSH:35.49IU/L and estradiol was less than 18.35 which go with hypergondotrophic hypogonadism. Magnetic resonance imaging MRI pelvis (Figure 1) showed: hypoplastic uterus and goA nadal dysgenesis and left gonadal tissue suggestive of testis. On pelvis laparoscopy, the uterus looked small, left gonad looked well developed while right gonad showed streak gonad and elongated clitoris, patient underwent bilateral gonadoectomy and clitroplasty. Histopathology gross description revealed left gonad ovarian like tissue attached with fallopian tube-like tissue, the ovary measure 2.0x1.0x1.0 cm, the attached fallopian like tissue measures 2.5 cm in length, no tumor was seen. Right gonad consists of one piece of fallopian tube like tissue measuring 2.0cm in length with attach tiny piece ovarian like tissue. Histological feature of left gonad consistent of infantile testicular tissue, Vas difference and collecting ducts were also seen, no intratubular germ cell neoplasia was detected (Figure 2A). Right gonad showed spermatic cord tissue with piece of vas deferens (Figure 2B).
Authors and Affiliations
Doua KH Al homyani, Sharifa Al Eissa, Rushaid NA AL Jurayyan, Nasir AM AL Jurayyan, Abdulrahman A Al Bassam
Keywords
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- EP ID EP586186
- DOI 10.26717/BJSTR.2018.11.002143
- Views 177
- Downloads 0
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