Congenital Absence of the Uterus and Vagina

Altchek, Albert

doi:10.1007/978-1-4613-9086-2_19

Cited by 4 publications

(6 citation statements)

References 27 publications

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“…Congenital absence of the uterus and vagina, also known as the Mayer‐Rokitansky‐Kuster‐Hauser syndrome, is the second most common cause of pubertal aberrancy in females, occurring once in every 4,000 to 5,000 female infants [Griffin et al, 1976; Reindollar et al, 1981; Neinstein and Castle, 1983; Altchek, 1991]. Patients with CAUV are phenotypically female, with normal ovaries, breast development, and female patterns of body hair.…”

Section: Introductionmentioning

confidence: 99%

“…Thirty percent of patients have renal malformations, most commonly unilateral renal agenesis or ectopia of one or both kidneys [Griffin et al, 1976; Neinstein and Castle, 1983]. Skeletal abnormalities, including spinal and limb defects, are present in 11–12% of CAUV patients [Griffin et al, 1976; Altchek, 1991]. Other CAUV‐associated anomalies, including cardiac defects and hearing defects, have been described [Griffin et al, 1976; Altchek, 1991].…”

Section: Introductionmentioning

confidence: 99%

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Role for anti-M�llerian hormone in congenital absence of the uterus and vagina

et al. 2001

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Molecular genetic techniques were used to determine if mutations in the genes encoding anti-Müllerian hormone (AMH) (also known as Müllerian inhibiting substance (MIS)) and its receptor (AMHR) are commonly present in patients with congenital absence of the uterus and vagina (CAUV). Twenty-two CAUV patients and 96 control subjects from diverse ethnic groups were studied after obtaining informed consent. Genomic DNA samples prepared from leukocytes were digested separately with several different restriction enzymes, and the resultant fragments were analyzed for restriction fragment melting polymorphisms (RFMPs) by denaturing gradient gel electrophoresis (DGGE). Electrophoretic mobility of DNA fragments which were 200-700 base pairs in length was compared using polyacrylamide gels that included linear gradients of denaturing solvents designed to separate DNA fragments according to sequence-dependent variation in thermal stability. Two RFMPs were found in the AMH gene in both patients and normal control subjects. One RFMP in the AMHR gene was present at low frequencies in both patients and normal control subjects. No RFMPs specific to CAUV patients were found in either gene. Because no mutations or rare DNA sequence polymorphisms were detected in the AMH and the AMHR genes in this group of CAUV patients, it is unlikely that either gene commonly has an etiologic role in CAUV.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Role for anti-M�llerian hormone in congenital absence of the uterus and vagina

et al. 2001

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“…Although its etiology is not well understood, CMA has been reported in two forms: typical or type A and atypical or type B. Symmetric uterine and fallopian tube remnants are observed in type A (1), whereas in type B, asymmetric or absent uterine and fallopian tube remnants, as well as accompanying urinary (15%-40%) and skeletal (10%-15%) anomalies, are reported (2)(3)(4). These urinary and skeletal deformities are believed to result from a defective fetal mesoderm at the time of primitive streak formation (5).…”

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confidence: 90%

Comparison of markers of ovarian reserve between patients with complete müllerian agenesis and age-matched fertile and infertile controls

Ozekinci

Akar

Şenol

et al. 2015

Fertility and Sterility

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“…1 There are many procedures which have been used to create a vagina for congenital absence or after surgical removal for malignancy. 2 These include vaginal dilators by external pressure (Frank method), pulling in the vaginal dimple from an abdominal approach (Vecchietti method) and creating an external pouch (Williams method). The traditional approach has been dissection of a space and lining it with an isolated segment of small or large bowel, peritoneum, dura, amnion, or other tissues.…”

Section: Introductionmentioning

confidence: 99%