An r(Y) with low material loss can be naturally transmitted, showing similar mitotic behaviour in the offspring. The presence of an r(Y) chromosome in germinal cells increased the risk of fathering offspring with numerical abnormalities, even for chromosomes not involved in the arrangement.

Alport syndrome (AS) is a genetically heterogeneous renal hereditary disease. Male-to-male transmission has been considered fully indicative of autosomal dominant AS. We report a family with male-to-male transmission of X-linked AS due to an extra X chromosome of paternal origin in the proband. Linkage analysis excluded the autosomal loci and demonstrated segregation with the COL4A5 locus (Xq22.3). Sperm FISH analysis from his father detected an increased XY disomy. Mutation screening of the COL4A5 gene identified a splicing mutation, c.4688G4A. The proband and his paternal grandmother showed random X chromosome inactivation. However, a preferential expression of the aberrantly spliced transcript was detected in the proband when compared to his grandmother. This finding could explain why the AS phenotype of this 47,XXY boy resembles more an affected male than a female carrier. This is the first reported case of concurrence of Alport and Klinefelter syndromes.

This randomized, prospective study was performed to compare 2 techniques used to reduce the size of an enlarged uterus before vaginal hysterectomy or laparoscopically assisted vaginal hysterectomy (LAVH). Thirty patients scheduled to undergo vaginal hysterectomy or LAVH were randomized to have uterine reduction performed using either bisection/morcellation (group I, n ϭ 14) or myometrial coring (group II, n ϭ 16). The 2 groups were comparable in clinical and demographic characteristics, including preoperative uterine size, operating times, surgical outcomes, and use of laparoscopic assistance. There were no conversions to laparotomy and no major perioperative complications. The uterus was successfully removed in all cases. The uterus weighed more than 280 g in 81% of the patients in group I (bisection/morcellation) and in 73% of the patients in group II (myometrial coring). There were no significant differences between the 2 groups in operative details except for the rate of extraction failure. In 4 patients (25%) in group II, myometrial coring failed to reduce the size of the uterus, necessitating the use of the bisection/morcellation technique to complete the operation. All reduction attempts were successful in group I (P ϭ 0.06 for difference). Blood loss and transfusion rate were similar in both groups (3 transfusions required in group I and 2 in group II). Postoperative data were similar in both groups with the exception of a greater number of patients with postoperative fever (28%) among those who had myometrial coring compared with bisection/morcellation (P ϭ 0.03). Most uterine characteristics were similar in women in whom uterine reduction with myometrial coring was or was not successful. However, myometrial coring failure occurred more often when the uterus was narrow (68.3 Ϯ 2.3 mm) compared with wide (83.9 Ϯ 9.6 mm; P ϭ 0.01) and less often in uteri heavier than 280 g. EDITORIAL COMMENT(There are many advantages to vaginal hysterectomy, and the skilled gynecologic surgeon will find the vaginal approach in the patient with an enlarged uterus both challenging and, hopefully, satisfying. However, there are several ad-vanced surgical techniques that are required to facilitate the removal of an enlarged uterus. In this article, Nazah and his colleagues from Paris compared bisection and morcellation with myometrial coring in a prospective, randomized, GYNECOLOGY Volume 59, Number 2 OBSTETRICAL AND GYNECOLOGICAL SURVEY ABSTRACT At the Mayo Clinic, vulvar vestibulitis is treated with vestibulectomy consisting of simple excision of the vulvar vestibule as described by Bornstein and Kaufman. The authors conducted a review of the medical records of their patients who underwent vestibulectomy between 1986 and 2002, and identified 45 who met the definition of vestibulitis described by Friedrich: 1) focal, reproducible points in the vestibule exquisitely tender to light touch; 2) coincident focal area of erythema; and 3) a history of superficial dyspareunia or severe pain on attempted vaginal entry. In addition, a ...

XY disomy frequencies increase with advancing paternal age only in fathers with paternally inherited KS offspring.

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