Gonadal Dysgenesis, 46,XY ; Gonadal Dysgenesis

No abstract available.
Gonadal Dysgenesis, Mixed*

No abstract available.
Gonadal Dysgenesis, Mixed*

No abstract available.
Gonadal Dysgenesis, 46,XY*

Complete gonadal dysgenesis with 46,XY karyotype is a clinical condition characterized by the absence of testicular tissue but typical Mullerian structures in a phenotypically female individual. The condition presents as primary amenorrhoea or delayed puberty. Eventually, malignant neoplasms may arise. We report a case of a 16-year-old patient with Swyer syndrome presenting with primary amenorrhoea and with previous diagnosis four years earlier of a malignant dysgerminoma in the right ovary.
Swyer syndrome ; dysgerminoma ; gonadal dysgenesis

Swyer syndrome is a medical condition that begins with a mutation in the SRY gene that favors the development of female reproductive organs despite the presence of Y chromosome. The aberrancy in testicular differentiation will lead to abnormal testosterone production and impaired Mullerian Inhibiting Substance secretion resulting in the formation of Mullerian derived structures and regression of Wolffian ducts. Since an XY karyotype is incompatible with follicle formation, the gonads will degenerate and become streak fibrous tissue. Patients are phenotypically female at birth with a uterus, fallopian tubes and bilateral steak gonads. Management involves puberty induction and bone loss prevention through combined hormonal replacement therapy. Bilateral gonadectomy should be performed soon after the diagnosis because of the risk of malignancy. Infertile, childbearing is only through assisted reproductive technology and oocyte donation.
Human ; Adult ; GONADAL DYSGENESIS, 46,XY ; AMENORRHEA

A case of 46 XY Gonadal Dysgenesis reared as a female will be presented. The patient underwent gonadectomy and histopathology shows testicular tissue.
Human ; Female ; Young Adult ; GONADAL DYSGENESIS ; HYPOGONADISM

45,X/46,XY mosaicism is a rare disorder with a wide heterogeneity in its manifestations. An 18-year-old girl was referred to the endocrine clinic for investigation of her primary amenorrhea. Clinical examination was unremarkable. Hormonal profile was consistent with primary ovarian insufficiency and human chorionic gonadotropin (hCG) stimulation did not show evidence of active testicular tissue. Karyotyping studies by G-banding revealed a 45,X/46,XY karyotype. She was diagnosed with mosaic Turner syndrome with Y chromosomal material and investigation was performed to identify the presence of male gonads due to the risk of gonadal malignancy. Magnetic resonance imaging (MRI) of the pelvis did not show evidence of gonads. Laparoscopic exploration was proposed but the patient and parents refused opting for conservative management. This case highlights the challenges in the management of this rare condition.
Gonadal Dysgenesis, Mixed ; Turner Syndrome ; Y Chromosome

Disorders of sexual development (DSD) defined as congenital conditions associated with atypical development of anatomical, gonadal or chromosomal sex, is a rare condition that may present with ambiguous genitalia. Included in the varied classes of DSD is mixed gonadal dysgenesis which is known to be due to mosaicism, a chromosomal aberration. Mosaic individuals may have concerns on growth, hormone balance, gonadal development, sex of rearing and fertility. This case report presents an 18-year old student who presented with primary amenorrhea, delayed secondary sexual characteristics and phenotypic features of Turner syndrome who, on chromosomal analysis revealed 45X0/46XY mosaicism. The patient underwent operative laparoscopy with bilateral gonadectomy on the basis of the increased risk of development of gonadal malignancy in phenotypic females with Y-chromosome material. Histopathological analysis revealed bilateral streak gonads. Hormone replacement therapy was then initiated for the induction of secondary female sex characteristics, as treatment for estrogen deficiency, for the induction of pubertal growth spurt and for optimization of bone mineral accumulation. Management of disorders of sexual development is challenging, thus the need for a multidisciplinary approach involving experts in endocrinology, gynecology, psychology and genetics.
GONADAL DYSGENESIS, MIXED ; MOSAICISM ; TURNER SYNDROME ; CASTRATION

The authors have experienced a case of mixed gonadal dysgenesis who had a testis on the left side and a streak gonad on the right side with a karyotype of 45,XO/46,XY mosaicism. Bilateral gonadectomy and feminizing genitoplasty were performed for this neonate.
Gonadal Dysgenesis, Mixed* ; Gonads ; Humans ; Infant, Newborn* ; Karyotype ; Mosaicism ; Testis