Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The syndrome of blepharophimosis, ptosis, and epicanthus inversus is a rare but well-documented autosomal dominant disorder. Although autosomal dominant inheritance has been repeatedly confirmed, several observers have noted that transmission of the trait is predominantly through an affected male parent. To our knowledge, no published observations have accounted for this unusual differential transmission. Described here is a family with typical features of this disorder and in addition primary amenorrhea in the affected women. The primary amenorrhea, which has not been previously documented in this disorder, does account for differential transmission in this family and possibly in other families. Since affected individuals are treated by ophthalmologists, the possible occurrence of this extraocular manifestation should be recognized in the management of patients and their families.
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PMID:Blepharophimosis, ptosis, epicanthus inversus, and primary amenorrhea. A dominant trait. 47 37

A 17-year-old girl was initially evaluated because of primary amenorrhea and lack of sexual development. Chromosome studies demonstrated the presence of 46,XX, del (18p). The patient is now 21 years old and still has not menstruated. This is the first reported case of 46,XX, del (18p) presenting with primary amenorrhea. The case is of additional interest in that ptosis, a common finding in this syndrome, was not present at birth but was first noted at age 9.
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PMID:Brief clinical report: 46,XX, del (18p) with amenorrhea, hypothyroidism, and ptosis. 729 67

In a Slovene patient with primary amenorrhoea without an association with blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), a novel 30 bp deletion was identified in the FOXL2 gene. We report the clinical features of this woman who has spontaneously conceived and delivered two live healthy babies. The novel deletion was predicted to remove 10 out of 14 alanines (A221_A230del), from the polyalanine tract downstream of the winged helix/forkhead domain of the FOXL2 protein. The patient's parents and sister were shown not to carry this deletion. Despite seeing an anovulatory secretory pattern of FSH, follicles developed spontaneously. Persistent and consistent monitoring have practical implications for genetic and fertility counselling in the era when women with premature ovarian failure usually seek ovum donation. The role of FOXL2 in the development of infertility is still unclear, but several lines of evidence suggest that it plays a central role in follicle development.
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PMID:A novel 30 bp deletion in the FOXL2 gene in a phenotypically normal woman with primary amenorrhoea: case report. 1545 70

The authors report the unique case of a 20-year-old patient with prolapsed uterus didelphys with noncanalized horns, who complained of primary amenorrhea. Clinical examination revealed a rudimentary noncanalized cervix with a third degree prolapse and no palpable uterus. A small prolapsing remnant of a uterus didelphys with 2 noncanalized uterine horns was excised by laparotomy. Ultrastructural examination of subepithelial cervical connective tissue revealed collagen of normal structure, but of low concentration. The etiologies of both the Mullerian ducts anomalies and the genital prolapse are probably multifactorial. Low collagen concentration indicates a constitutional tissue weakness contributing to the development of genital prolapse.
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PMID:Noncanalized horns of uterus didelphys with prolapse: a unique case in a young woman. 1909 56