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No hysterectomy was performed, while tissue bands, which might have corresponded to rudimentary Müllerian or Wolffian derivatives, were dissected. Diagnostic, laparoscopic inspection of the pelvis minor did not confirm any presence of gonads.
#MUTATION SURVEYOR DEMO SKIN#
A high resolution cytogenetic analysis of lymphocyte and skin fibroblast cultures showed a 46,XY karyotype. No gonadal structures were found either in the adnexal area or – bilaterally – in the inguinal fossae. A rudimentary uterus, measuring 1.72 cm × 1.23 cm, and a linear endometrium were found in intrarectal sonography.
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Neither craniofacial anomalies, nor vertebral anomalies nor mental retardation were observed. The external genitals were female in appearance, however delayed puberty was noted (Th-1, P-1 A-0). Clinical examination did not confirm the presence of gonadal dysgenesis stigmata. Endocrinologic investigations showed hypergonadotropic hypogonadism with elevated FSH and LH and oestrogen concentration below normal reference values. The main complaint of the female, 18 year-old patient was primary amenorrhoea.
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In this study clinical, endocrinological and molecular data of a female patient with primary amenorrhoea and with a negative family history are discussed. All patients with complete gonadal dysgenesis have an increased risk of malignant transformation (Cools et al., 2006, Hersmus et al., 2009). SRY mutations can affect DNA binding, DNA bending or the nuclear transport (Harley et al., 2003).Ĥ6,XY gonadal dysgenesis individuals show a phenotypical female appearance, but they may be present at puberty with absence of secondary sexual characteristics and primary amenorrhoea. The majority of detected mutations occur de novo within the highly conserved HMG box region, thus highlighting the critical role of this domain. Mutations of the SRY gene play a role in 46,XY disorders of sex development causes (46,XY DSD) and they are present in about 10-15% of 46,XY gonadal dysgenesis cases mutations are present (Hughes, 2008, Ostrer, 2008). This region is flanked by two nuclear localization signals (NLS) at the N- and C-terminal ends of this domain (3,4). The central domain contains 79 amino acids and is known as a High Mobility Group (HMG) box, which is found in a number of transcription factors. The human SRY gene encodes a 204 amino acid protein that comprises three domains: N-terminal, central (DNA binding) and C-terminal. The best-defined gene involved in gonadal differentiation is SRY located in the Y chromosome (Yp11.3) and it induces the bipotential gonad to differentiate into a testis. Several genes are involved in the process of sex differentiation, including SRY, RSPO1, SOX9, NR5A1, WT1, NR0B1 and WNT4. The novel mutation detected in the SRY gene may be an aetiopathogenic factor in clinically defined 46,XY complete gonadal dysgenesis (CGD).īecause of an increased risk of gonadoblastoma, proper early diagnosis and treatment prevent development of malignancies.Ĥ6,XY complete gonadal dysgenesis is a disorder of sex development (DSD) which results in discordance between genetic, gonadal and phenotypic sex. N65D) missense mutation within the HMGbox of SRY gene was detected.Įscherichia coli expression of SRY study showed reduced expression of the mutated protein and gel retardation assay method revealed lowered DNA-binding ability in N65D variant of SRY. Using a molecular analysis, a novel (c.341A > G, p. The clinical, endocrine, histopathologic and cytogenetic data are consistent with gonadal dysgenesis. We studied a 46,XY female patient with primary amenorrhoea and negative family history. SRY mutations are associated with the presence of XY gonadal dysgenesis symptoms. SRY (sex-determining region Y) gene, MIM 480000, NM_005634) is crucial for sex differentiation which encodes the protein responsible for initiating testis differentiation.