1/9. Discordant growth pattern and ovarian function in monozygotic twins with 45,X/46,XX mosaicism.BACKGROUND: We report on phenotypically discordant female monozygotic twins with 45X/46,XX mosaicism in both lymphocytes and fibroblasts. RESULTS: At 11.5 years, twin A was prepubertal, her height was 126.8 cm (-3.15 SD), bone age (BA) 9.7 years (TW2), FSH 47 IU/l and IGF-I 280 ng/ml (-0.89 SD), but twin B was pubertal (P2, B3), her height was 143.4 cm (-0.92 SD), BA 13.6 years (TW2), FSH 3.4 IU/l and IGF-I 380 ng/ml (-0.21 SD). One year later, twin A had grown 11.1 cm due to growth hormone therapy and had IGF-I 1,400 ng/ml ( 5.91 SD), whereas the growth velocity of twin B (no therapy) was 5.9 cm, IGF-I 540 ng/ml ( 0.57 SD) and she started regular menstruation at 12.1 years. CONCLUSION: To our knowledge, this is the first report on monozygotic twins with Turner mosaicism in both lymphocytes and fibroblasts who developed a discordant phenotype probably due to an unequal distribution of the two cell lines in distinct tissues.- - - - - - - - - - ranking = 1keywords = menstruation (Clic here for more details about this article) |
2/9. Typical Turner's syndrome with 45 XO karyotype and normal menstruation. Cytogenetic and histological findings.The clinical, laboratory, histological and cytogenic findings in a patient with Turner's syndrome with normal menstruation are presented. Although the phenotype and karyotype were those of Turner's syndrome, normal sexual development and periods occurred at puberty. The endocrine studies revealed onyl a mild diabetic oral glucose tolerance test. At laparotomy, normal uterus, fallopian tubes and ovaries were seen. Histological examination of the ovaries showed several primordial follicles and a follicle cyst. Tissue cultures of lymphocytes, skin fibroblasts and ovary revealed a single line of cells with the 45 XO karyotype. Although 25 cases of Turner's syndrome with normal sexual development have been reported, most of them were mosaics and only a small number showed the pure 45 XO karyotype.- - - - - - - - - - ranking = 5keywords = menstruation (Clic here for more details about this article) |
3/9. turner syndrome: a case of gonadal dysgenesis.An eighteen years old girl came from Ishargang, Mymensingh complaining of short stature, absence of development of breast, lack of menstruation and other secondary sex characters. She was found in infantile appearance with a height of 123 cm, body weight of 28 kg. She had short, broad, webbed neck, cuvitus valgus, absence of development of breast, axillary and public hairs with infantile external genitalia. Hormonal profile revealed high level of LH and FSH, low level of estrogens. ultrasonography revealed uterine hypoplasia and ill defined gonadal streaks, karyotype showed typical 45, X0 pattern. She was diagnosed as a case of gonadal dysgenesis due to turner syndrome.- - - - - - - - - - ranking = 1keywords = menstruation (Clic here for more details about this article) |
4/9. Endometrioma of uterine serosa in a woman with mosaic Turner's syndrome receiving hormone replacement therapy: case report.endometriosis in Turner's syndrome patients has only been reported in five isolated cases. We present here an endometrioma on the uterine serosa and pelvic endometriosis arising in a mosaic Turner's patient receiving hormone replacement therapy (HRT). The 24 year old patient with mosaic Turner's syndrome [45,X; 46,X pseudo dicentric Y (q11.23)], on cyclic HRT after laparoscopic gonadectomy 5 years previously, was found to have an adnexal mass on routine examination. Given her history, due to the fear of a malignant process arising from a potential gonadal remnant, she underwent a laparoscopy and was found to have a 5 cm serosal endometrioma arising on a stalk from the uterine fundal surface as well as pelvic endometriosis. De-novo endometrioma and endometriosis occurred in a mosaic Turner's patient after gonadectomy on cyclic HRT. The presentation was also unusual with a pedunculated endometrioma arising from the uterine serosa. Due to the fact that the patient did have cyclic menstrual flow, her endometriosis may have arisen from retrograde menstruation or coelomic metaplasia induced by exogenous hormones.- - - - - - - - - - ranking = 1keywords = menstruation (Clic here for more details about this article) |
5/9. Ovarian transplant: a new frontier.Two cases of orthotopic ovarian transplantations were performed on patients diagnosed to have Turner's syndrome (ovarian dysgenesis) with primary amenorrhea, short stature, and absent secondary sexual characters. Chromosomal analysis showed 45XO pattern. Both transplants were living related from a sister and from a mother. In both the cases the donor and the recipient were immunologically matched by blood group, histocompatibility antigens (HLA), and lymphocyte cross-match done twice. The donor ovaries were dissected extraperitoneally to have long vascular pedicles. In the first case the donor ovarian vein was sutured end-to-side to external iliac vein and the ovarian artery was sutured to the inferior epigastric artery end-to-end using an operative microscope. The ovary was placed in the orthotopic position transperitoneally. Follow-up for 2.5 years has shown regular menstruations, documented ovulations, rise in hormonal levels, and development of secondary sexual characters. In the second case there was no large vein available for anastomosis so that an avascular orthotopic transplantation was performed. The ovarian cortex was dissected in a fan-shaped manner of 0.5-cm strips. Two grafts sutured onto surgicel were placed orthotopically in the ovarian fossa and the remaining ones were placed into the broad ligament. One month follow-up shows good take-up and follicular development on USG, power-angio, and MRI. Hormonal rise has indicated functioning graft. immunosuppression was achieved in both cases using cyclosporine (4 mg/kg) and prednisolone (2 mg/kg).- - - - - - - - - - ranking = 1keywords = menstruation (Clic here for more details about this article) |
6/9. Familial hypopituitarism associated with mosaic form of turner syndrome.We present herein an unusual coincidence of familial hypopituitarism associated with a mosaic form of turner syndrome in two adult sisters (51 and 43 years old). Both patients had hypopituitarism diagnosed in childhood. They have never been administered growth hormone, and remained short in stature. They were not given long-term estrogen-progestin treatment, despite lack of menstruation. Early in childhood both received thyroid hormone substitution. Pituitary imaging revealed pituitary hypoplasia with partial empty sella in one sister, and pituitary hypoplasia in the other. Very recently, during endocrinological evaluation, they were diagnosed with a mosaic form of turner syndrome, additionally to their hypopituitarism. In this paper, we place special emphasis on the results of hormonal analyses and discuss the differential diagnosis.- - - - - - - - - - ranking = 1keywords = menstruation (Clic here for more details about this article) |
7/9. Normal menstruation in a case with many of the morphological features of Turner's syndrome--an unusual manifestation.A case is reported of normal menstruation in a patient with many of the morphological features of Turner's syndrome.- - - - - - - - - - ranking = 5keywords = menstruation (Clic here for more details about this article) |
8/9. X/X translocation and Turner's syndrome in a woman with climacterium praecox.A woman with X/X translocation is presented, and the association between the different types of X/X translocation and Turner's syndrome as well as the question of menstruations and fertility in women with Turner's syndrome are discussed. It is concluded that streak gonads should most probably not be included in the definition of Turner's syndrome.- - - - - - - - - - ranking = 1keywords = menstruation (Clic here for more details about this article) |
9/9. Turner phenotype in mother and daughter.Two females are described, mother and daughter, who had the Turner phenotype and spontaneous sexual development. The mother is short and had ovulatory menstrual cycles, normal breast development, X-chromatin negative buccal smear, 45,X chromosomal pattern in her peripheral blood lymphocytes, and 45,X/46,X,r(X) mosaicism in her skin, with the majority of the cells (85%) showing X monosomy. She had a successful uncomplicated pregnancy at the age of 25 years. The daughter is short and had spontaneous sexual development, including menstruation at the age of 15 years. Her buccal smear was X-chromatin negative and karyotypes from peripheral blood lymphocytes and skin fibroblasts showed a 45,x chromosome constitution. Her menstrual cycles are irregular and, most probably, anovulatory. She has a horseshoe kidney. Six women with a 45, x chromosome complement are known to have delivered normal infants with no chromosomal abnormality. Five children with 45,X mosaicism have been born to mothers with 45,X mosaicism; all had a 46,XX cell line as well. This is the first report of a 45,X female born to a mother with mosaicism composed of 2 abnormal cell lines, 1 with X monosomy and 1 with a ring x chromosome.- - - - - - - - - - ranking = 1keywords = menstruation (Clic here for more details about this article) |