11/35. gonadal dysgenesis with a difference.We report here an exceptional clinical finding of a 46,XY phenotypic female with complete gonadal dysgenesis, but who was found unexpectedly to have absence of the uterus and posterior vagina. Extensive review of current and past literature failed to confirm other reports of this variant form of complete gonadal dysgenesis.- - - - - - - - - - ranking = 1keywords = uterus (Clic here for more details about this article) |
12/35. gonadal dysgenesis with no uterus or vagina in a female. A case report.An 18-year-old girl presented with primary amenorrhea and absence of secondary sexual characteristics. She had gonadal dysgenesis, clitoromegaly, absence of the vagina and a 46,XY chromosome pattern.- - - - - - - - - - ranking = 4keywords = uterus (Clic here for more details about this article) |
13/35. Deficiency of 17 alpha-hydroxylase associated with absent gonads.A phenotypic female presented initially at the age of 17 years with amenorrhoea and delay of sexual development. karyotype was male, 46 XY, and as gonads were absent, a diagnosis of congenital anorchia was made. The patient was treated with oestrogen. At the age of 23 years, she re-presented with tall stature and hypertension. She then had normal female habitus but absent pubic and axillary hair. Re-investigation showed that sex steroids and cortisol were absent and established the diagnosis as 17 alpha-hydroxylase deficiency. Treatment with hydrocortisone rapidly corrected the hypertension. Ultrasound examination confirmed the absence of gonads but showed that a small uterus was present. Measurement of serum cortisol is important for recognition of such patients, but further measurements of sex steroids, particularly progesterone, are needed to prove the diagnosis. We have found no previous reports of absent gonads in 17 alpha-hydroxylase deficiency. The association remains unexplained.- - - - - - - - - - ranking = 1keywords = uterus (Clic here for more details about this article) |
14/35. Pure XY gonadal dysgenesis presenting as secondary amenorrhea. A case report.Secondary amenorrhea developed after two years of normal menstruation. On investigation, the patient's karyotype was 46,XY, the serum testosterone and free androgen index were elevated, and bilateral gonadoblastomas and dysgerminomas were found in the gonads. The uterus, fallopian tubes and vagina were normal. The gonads were removed and chemotherapy given because of lymphadenopathy.- - - - - - - - - - ranking = 1keywords = uterus (Clic here for more details about this article) |
15/35. Mayer-Rokitansky-Kuster-Hauser syndrome associated with thrombocytopenia-absent radius syndrome.OBJECTIVE: To describe the association of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome and thrombocytopenia-absent radius (TAR) syndrome. DESIGN: Descriptive case report. SETTING: Tertiary university-affiliated care and referral facility. PATIENT(S): A 22-year-old woman with TAR syndrome referred to our department with primary amenorrhea. INTERVENTION(S): Patient history, physical and laboratory examination, diagnostic laparoscopy, and karyotyping. MAIN OUTCOME MEASURE(S): Physical features in the combination of syndromes presented. RESULT(S): laparoscopy revealed absent uterus and complete vaginal agenesis. CONCLUSION(S): This extremely rare case might provide further evidence of a link between the development of the skeletal system and the genitourinary tract.- - - - - - - - - - ranking = 1keywords = uterus (Clic here for more details about this article) |
16/35. Swyer syndrome with SRY y chromosome and rudimentary internal genitalia demonstrating temporary action of antimullerian hormone in utero: a case report.BACKGROUND: XY gonadal dysgenesis is characterized by streak gonads in phenotypic females without somatic abnormalities. This case demonstrated a hypoplastic uterus, an unlikely finding for the syndrome, suggesting insufficient function of antimullerian hormone prenatally. CASE: A 20-year-old, female virgin was first seen 2 years earlier complaining of primary amenorrhea. She was 168 cm tall, and secondary sexual characteristics, such as breast development and pubic and axillary hair, were absent on physical examination. Chromosome analysis with fluorescence in situ hybridization revealed 46,XY, and a molecular investigation was undertaken to assess the possibility of a mutation in SRY through dna sequencing. SRY mutations were absent. Bilateral laparoscopic removal of dysgenetic gonads was performed at another medical center immediately after genetic confirmation for an increased risk of malignancy. When the patient was seen 1 year later, we performed ultrasonography because of no menstrual outflow. Pelvic ultrasonography revealed a hypoplastic uterus (26 x 12 mm) with a rudimentary cervix. CONCLUSION: Clinical phenotypes of different mutations of the y chromosome, particularly on SRY, may cause Swyer syndrome patients to have a uterus with fertility potential after oocyte donation.- - - - - - - - - - ranking = 3keywords = uterus (Clic here for more details about this article) |
17/35. A triple-X female with long arm deletion of one of the X-chromosomes associated with primary amenorrhoea: 47,XX, del(X) (q27.3).A 25-year-old phenotypic female with primary amenorrhoea was referred for chromosomal analysis. Earlier she had undergone hormonal therapy but showed no response. The secondary sex characters were of female type, with poor breast development. Laparoscopic findings revealed the presence of a very small uterus; the right ovary was found to be undeveloped and the left was absent. Cytogenetic study revealed a case of triple-X with deletion of the terminal region of the long arm of one of the X chromosomes [Xq27.3]. Among the 100 buccal mucosa cells analysed, 30 cells showed double Barr bodies. Hormonal studies using RIA technique revealed normal levels of prolactin (9.1 ng/ml), a high level of FSH and LH (135 and 61 mIU/ml) and low levels of estradiol and progesterone (12 pg/ml and 0.20 ng/ml respectively). To our knowledge, this may be the first report of a triple X with deletion of the x chromosome associated with primary amenorrhoea.- - - - - - - - - - ranking = 1keywords = uterus (Clic here for more details about this article) |
18/35. cerebellar ataxia and hypogonadism. A clinicopathological report.A female showed primary amenorrhea and slowly progressive ataxia of limbs and gait, that had started when she was 18 years old. Endocrine data were consistent with hypogonadotropic hypogonadism. She died at 35 years of age. Post mortem examination showed mucinous carcinoma of the lung, hypoplastic uterus, atrophic ovaries. The cerebellum was small, with the atrophy most marked in the vermis, and the pons was shrinked. There was almost complete Purkinje cell disappearance and neuronal loss in the granular layer and the inferior olives.- - - - - - - - - - ranking = 1keywords = uterus (Clic here for more details about this article) |
19/35. A patient with pure gonadal dysgenesis, gonadal tumour and virilisation.A phenotypic female, karyotype XY presented with virilisation and amenorrhoea. The gonads showed evidence of oestrogen and testosterone production and, in view of the risk of malignancy, a laparotomy was performed. A streak gonad was present on one side with a streak gonad containing discrete tumours on the other. The uterus and fallopian tubes were present. Removal of the gonads and uterus and subsequent oestrogen replacement therapy have produced a satisfactory clinical result.- - - - - - - - - - ranking = 2keywords = uterus (Clic here for more details about this article) |
20/35. Coexistence of gonadal dysgenesis and uterine aplasia. A case report.A 16-year-old woman who presented with amenorrhea had absence of the uterus, a normal vagina and gonadal dysgenesis.- - - - - - - - - - ranking = 1keywords = uterus (Clic here for more details about this article) |
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