共查询到20条相似文献,搜索用时 31 毫秒
1.
D W Cramer V A Ravnikar M Craighill W G Ng D P Goldstein R Reilly 《Fertility and sterility》1987,47(6):930-934
The activity and electrophoretic pattern of galactose-1-phosphate uridyl transferase (transferase), a key enzyme in galactose metabolism, were analyzed in four patients with Müllerian aplasia (Rokitansky-Küster-Hauser syndrome) and their mothers. Mothers of two of the patients had genetic variations of their transferase enzymes with activities below the normal range. Affected daughters from these two mothers also had genetic variations of the transferase enzyme. In one of the patients whose Müllerian aplasia had been diagnosed 15 years previously, premature ovarian failure developed. These case reports suggest a possible association between errors of galactose metabolism, Müllerian aplasia, and premature menopause--an association that is supported by a rodent model in which female offspring of mothers fed a high-galactose diet were born with reduced oocyte numbers and delayed vaginal opening. 相似文献
2.
Sandbacka M Bruce S Halttunen M Puhakka M Lahermo P Hannula-Jouppi K Lipsanen-Nyman M Kere J Aittomäki K Laivuori H 《Fertility and sterility》2011,95(8):2703-2706
Severe hypomethylation of the H19 imprinted control region (ICR1) in two patients with Silver-Russell syndrome (SRS) who have genital malformations has encouraged us to study DNA methylation in a cohort of 83 patients with Müllerian aplasia (MA). Site-specific methylation analyses of H19 ICR1 by quantitative real-time polymerase chain reaction in 80 clinically well-diagnosed Finnish MA patients showed no association between hypomethylation and the MA phenotype, but studies of the H19 locus in 38 patients showed aberrant methylation in 3/16 studied sites. 相似文献
3.
We describe the case of a woman with some features of the MURCS (Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia) association, along with a radial ray anomaly. She had fusion of two cervical vertebrae, and a unicornuate uterus as MURCS components; and thenar muscle hypoplasia and absent radial pulses reflecting radial ray elements. We review two similar cases from the literature. We discuss whether our case might represent an incomplete and variant form of the MURCS association, or an example of an overlap between the MURCS and VATER (vertebral, anal, tracheo-esophageal, radial) associations. 相似文献
4.
J P Mendez A Ulloa-Aguirre F J Sánchez O Mutchinick G Pérez-Palacios 《European journal of obstetrics, gynecology, and reproductive biology》1986,22(3):161-169
A new case of Mullerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia (MURCS association) in a 16-yr-old female patient is reported. In addition, agenesis of the right ovary plus hypoplasia of the right craniofacial bones were also present. Dynamic tests of anterior pituitary reserve (LH-RH, TRH and hypoglycemia) showed normal responsiveness of this gland in terms of LH, FSH, TSH, prolactin and growth hormone secretion, whilst a subnormal plasma cortisol response to hypoglycemia and exogenous ACTH (in the presence of unilateral adrenal agenesis) was found. Functional integrity of the hypothalamic-pituitary-ovarian axis was also documented. The presence of two additional and previously unreported congenital anomalies in this patient with MURCS association underlines the wide spectrum of the syndrome. 相似文献
5.
Five male patients with infertility due to biopsy-proven germinal cell aplasia were given a 100-microng bolus of luteinizing hormone (LH)/follicle-stimulating hormone (FSH)-releasing hormone (LRH), and the resultant LH, FSH, and testosterone responses were correlated with their histologic patterns on testicular biopsy. The basal and stimulated FSH values were elevated in four of five patients. Basal LH values were elevated in three patients, while two clearly had exaggerated LH and testosterone responses to LRH. Although there was little correlation between various parameters, elevated basal LH values were associated with Leydig cell hyperplasia. Higher basal FSH levels were present when fibrosis and complete aplasia of germinal elements were found in the same biopsy specimen, and the magnitude of the FSH response to LRH correlated positively with the basal concentration. The findings of elevated basal LH values, an exaggerated LH response to LRH, lack of testosterone response, and Leydig cell hyperplasia indicate a definite disturbance of the LH-testosterone axis in many patients with germinal cell aplasia. Therefore, the regulation of secretion of both gonadotropins appears to be abnormal in this disorder. 相似文献
6.
Melliou H Daskalopoulou E Evdokimides I Gourounti K Christopoulos P Kreatsas G Vaslamatzis G 《Clinical and experimental obstetrics & gynecology》2012,39(2):239-241
The Mayer-Rokitansky-Kuster-Hauser (MRKH) is a syndrome of unknown etiology characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in women showing normal development of secondary sexual characteristics. We report the case of a patient with vaginal aplasia and schizophrenia presenting with sexual delusion. To the authors' knowledge this is the first case to provide evidence of coexistence between MRKH and sexual delusion in a schizophrenic patient. The core of the patient's delirium was that she was having sexual intercourse with an eminent person through the big toe of her right foot. We approached this case using a neurological and a psychodynamic hypothesis. The neurological hypothesis suggests that the "deactivation" of the patient's genitalia led to an expansion of the adjacent big toe cortical area. The psychodynamic hypothesis supports that the sexual function and pleasure was partially expelled from the body image and was stored in a non sexual part of the body (i.e., big toe). Clinicians should be aware of this association and offer patients with MRKH psychological or/and psychiatric evaluation. 相似文献
7.
S Alborzi M Momtahan M E Parsanezhad M Yazdani 《International journal of gynaecology and obstetrics》2005,88(3):299-302
OBJECTIVE: To evaluate the efficacy of a peritoneal graft for the treatment of cervical aplasia. METHOD: Four patients with cervical aplasia who had a functioning endometrium and hematometra were recruited for this clinical trial. Through an abdominoperineal approach a plastic stent was inserted between the endometrial cavity and the upper part of the vagina; then, a graft of peritoneum was applied over the stent. In the absence of a vagina, grafts of skin or amniotic membrane were also used. The plastic stent was removed after 1 month in 2 patients and after 1 week in the 2 other patients. RESULT: After more than 1 year of observation the 4 patients had regular menstrual cycles with normal menstruation. Sonographic examinations also showed empty uterine cavities. CONCLUSION: Traditional gynecology textbooks recommend hysterectomy in cases of cervical aplasia. This report presents a new technique with 2 variations using a peritoneal graft. Although both variations were successful in the treatment of cervical aplasia in 4 women, more trials are needed to determine which one should be developed. 相似文献
8.
Uliana V Giordano N Caselli R Papa FT Ariani F Marcocci C Gianetti E Martini G Papakostas P Rollo F Meloni I Mari F Priolo M Renieri A Nuti R 《Clinical dysmorphology》2008,17(1):13-17
The MURCS association [Müllerian Duct aplasia or hypoplasia (M), unilateral renal agenesis (UR) and cervicothoracic somite dysplasia (CS)] manifests itself as Müllerian Duct aplasia or hypoplasia, unilateral renal agenesis and cervicothoracic somite dysplasia. We report on a 22-year-old woman with bicornuate uterus, right renal agenesis, C2-C3 vertebral fusion (MURCS association) and 22q11.2 deletion. Angio-MRI revealed the aberrant origin of arch arteries. Hashimoto thyroiditis, micropolycystic ovaries with a dermoid cyst in the right ovary and mild osteoporosis were also diagnosed. Accurate revision of radiographs enabled us also to identify thoracolumbar and lumbosacral vertebral-differentiation defects. Audiometry and echocardiogram were normal. Bone densitometry showed osteoporosis. As per our evaluation, the patient had short stature, obesity (BMI 30.7) and facial features suggestive of the 22q11 deletion syndrome. Multiplex ligation-dependent probe amplification analysis showed a de-novo 22q11.2 deletion confirmed by array-comparative genomic hybridization analysis. We discuss whether this is a casual association or whether it is an additional syndrome owing to the well known phenotype extensive variability of the 22q11 deletion syndrome. 相似文献
9.
We report on a male infant, born to nonconsanguineous parents, with a vertebral anomaly, cardiac defect, tracheo-oesophageal fistula and hypospadias (VACTERL association) together with bilateral tibial aplasia. This pattern of abnormalities appears to represent a unique syndrome. 相似文献
10.
Creation of a neovagina with use of a pudendal thigh fasciocutaneous flap and restoration of uterovaginal continuity 总被引:4,自引:0,他引:4
Selvaggi G Monstrey S Depypere H Blondeel P Van Landuyt K Hamdi M Dhont M 《Fertility and sterility》2003,80(3):607-611
OBJECTIVE: To create a neovagina and an endocervival canal in two patients with vaginal aplasia and a functioning uterus. DESIGN: Technique and instrumentations. SETTING: University hospital. PATIENT(S): A 31-year-old woman with vaginal aplasia and a double noncommunicating uterus (classified as Mayer-Rokitansky-Kuster-Hauser syndrome) and a 19-year-old woman with partial vaginal aplasia and a functional uterus. INTERVENTION(S): Creation of a neovagina by using the bilateral pudendal thigh fasciocutaneous flap procedure and laparotomy to establish uterovaginal continuity. MAIN OUTCOME MEASURE(S): Clinical follow-up evaluation of restoration of outflow of menstrual blood and coital satisfaction. RESULT(S): Uterovaginal continuity was established in both patients, resulting in normal menstruation. Granulomatous polyps occurred in one patient, and stenosis at the site of anastomosis occurred in the other patient; these conditions were successfully managed. Unimpeded menstrual flow continued after 1 year of follow-up in one patient and 3 years of follow-up in the other patient. CONCLUSION(S): Bilateral fasciocutaneous pudendal thigh flaps permit vaginal reconstruction and a uterovaginal connection in patients with vaginal agenesis and a functional uterus. The main advantages of this technique are that postoperative dilatation is not necessary, sensation is maintained, and the resulting scar is inconspicuous. The main disadvantage is the presence of some sebaceous vaginal secretion and hair in the vaginal lining; the latter can be managed by preoperative and postoperative laser depilation. 相似文献
11.
Chih-Ping Chen Tung-Yao Chang Yi-Yung Chen Schu-Rern Chern Jun-Wei Su Wayseen Wang 《Taiwanese journal of obstetrics & gynecology》2013,52(4):575-579
ObjectiveWe present a case of VACTERL association with hydrocephalus (VACTERL-H) in a fetus conceived by in vitro fertilization (IVF) and embryo transfer (ET) and review the literature.Case reportA 35-year-old woman presented with multiple fetal anomalies at 22 weeks of gestation. She and her husband were non-consanguineous and there was no family history of congenital malformations. This was her second pregnancy conceived via IVF-ET. Two embryos had been implanted and only one survived. She underwent chorionic villus sampling at 17 weeks of gestation because of oligohydramnios and advanced maternal age. Cytogenetic analysis revealed a karyotype of 46,XY, and array comparative genomic hybridization analysis revealed no genomic imbalance. Prenatal ultrasound at 21 weeks of gestation revealed a singleton with fetal biometry equivalent to 18 weeks, ventriculomegaly, a small cerebellum, and a ventricular septal defect. Level II ultrasound showed a single umbilical artery, scoliosis, a right club hand, radial aplasia, and renal agenesis. The parents elected to terminate the pregnancy at 22 weeks of gestation, and a fetus was delivered with bilateral arthrogryposis, right radial aplasia, a club hand and thumb aplasia, hypoplasia of the left thumb, scoliosis, and an imperforate anus. The clinical findings were consistent with the diagnosis of VACTERL-H. Molecular analysis of PTEN, FANCB, and HOXD13 genes revealed no mutation.ConclusionPrenatal diagnosis of radial ray defects in fetuses conceived by assisted reproductive technology should include a differential diagnosis of VACTERL association with anorectal malformation. VACTERL-H may occur in pregnancy after IVF-ET. 相似文献
12.
We report simultaneous occurrence of right partial hemihypoplasia and ipsilateral aplasia of humerus in a fetus with VACTERL association. Our case has further demonstrated the overlap between VACTERL and body hemihypoplasia. 相似文献
13.
On the basis of the studies of the embryogenesis of the vagina, the authors consider that malformations classically described as being partial aplasia should not be separated from the total absence of the vagina. The important feature is the association of a functioning or non functioning uterus with the absence of the vagina. They believe that it is incorrect to describe the pouch of menstrual retention associated with a functioning uterus as "haematocolpos" and that is not justified to describe the cup-shaped vestibular depression as "hemi-vagina". According to the authors, although vaginal aplasia with a functioning uterus forming a pouch of menstrual retention constitutes an absolute indication for surgery, surgery is not justified in cases of vaginal aplasia with a non functioning uterus. If Frank's method fails in these cases, the patient or the couple should be referred to a sexologist, as women with this anomaly retain a perfect femininity, although unable to conceive. 相似文献
14.
We report on a girl with anal atresia, renal aplasia, vertebral and rib anomalies, amelia and hemifacial microsomia. The patient demonstrates the overlap between the VACTERL association and the oculoauriculovertebral dysplasia. We propose that amelia is a severe manifestation of the limb defects which occur in these developmental dysplasias. 相似文献
15.
A fetus with bilateral radial aplasia was identified on routine ultrasound. The diagnosis of thrombocytopenia absent radius (TAR) syndrome was confirmed with cordocentesis. The differential diagnosis of radial aplasia and prenatal tests available to assist with management are discussed. Cordocentesis offered useful information in the management of this case for both diagnosis and in deciding the route of delivery. We believe our case represents the first prenatal diagnosis of TAR syndrome in which vaginal delivery of a liveborn infant was intentionally allowed. Caesarean delivery may not be necessary for all fetuses diagnosed with TAR syndrome. 相似文献
16.
《Journal of pediatric and adolescent gynecology》2014,27(6):375-378
Study ObjectiveTo compare a case series of the obstructed hemivagina, ipsilateral renal anomaly and uterine didelphys triad with the literature, with a focus on a subset of patients with cervical aplasia.Design, Setting, and ParticipantsA retrospective case series was conducted of all patients with the triad managed between 2005-2013 at a tertiary center for adolescent gynecology.ResultsSimilarities in this cohort, compared to the literature, included heterogeneity of presentation, presence of endometriosis, and asymmetry of affected side. Notable differences included 1 patient with a 16p11.2 microdeletion and 2 patients with subsequent unilateral cervical aplasia. All patients underwent magnetic resonance imaging for diagnosis. Vaginal septum division was performed in 8 cases and excision in 1 case. Both cases with cervical aplasia ultimately underwent hemi-hysterectomy, and highlight the implications of this rare variant in regards to its existence, limitations of magnetic resonance imaging in this context, and suggestions for improvement in diagnosis and management.ConclusionThe complexity of these cases, especially the evolving manifestation of cervical aplasia postoperatively, illustrates the need to recognize limitations in imaging and divergence in definitive management. 相似文献
17.
A Baumgartner G Grzejszczyk F Klink F Oberheuser H Rehder 《Zentralblatt für Gyn?kologie》1986,108(16):990-994
The Ivemark-Syndrome (Alienie Syndrome) is defined by the characteristic association of splenic aplasia, organsymmetry and other malformations especially of the cardiovascular system. More than 200 cases are reported. The incidence of Ivemark-Syndrome is very low. The aetiology is not yet clearly defined. As a main cause exogen factors between the 31st and 38th day of gestation are discussed, but a genetic cause has not been detected yet. Due to the unfavourable prognosis an intensive ultrasonographic screening is to be asked for. 相似文献
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19.
Report on a female infant with iris coloboma on the right and microphthalmia/orbital cyst on the left, single nostril, radial defectis, abnormal lung lobation, congenital heart defect, hypoplastic spleen, absent gallbladder, microgastria, unilateral renal aplasia, arhinencephaly and fused thalami. This case represents an unusually severe expression of a probably rare association recently reviewed by Lueder et al. (1989). 相似文献
20.
Pycnodysostosis (OMIM 265800) is an uncommon hereditary disorder characterized by osteosclerosis of the skeleton, short stature, and bone fragility. The syndrome was first described by Maroteaux and Lamy (1962). Facial dysmorphology, hypoplasia of the mandible,dysplasia of the skull, bones with delayed closure of the cranial sutures, clavicular dysplasia, acroosteolysis or partial aplasia of the terminal phalanges, and abnormal tooth eruption have also been reported (Gelb et al., 1995). An autosomal recessive mode of inheritance has been also suggested and the locus of the disease was initially mapped to human chromosome 1q21 by genetic linkage (Bernard et al., 1980). Since then, several mutations on unrelated patients and consanguineous families have been identified in the cathepsin K gene (CTSK), affecting osteoclast function.Only two previous reports have demonstrated the presence of craniosynostosis in patients with pycnodysostosis(Fleming et al., 2007; Osimani et al., 2010). The purpose of this case report is to describe the craniofacial and dental features of a 12-year-old boy with pycnodysostosisand an uncommon association with craniosynosotosis. 相似文献