[Kearns-Shy syndrome associated with choreic movement, primary hypogonadism, and brain CT abnormalities].
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Biomedical subjects
Publications and source records attributed to M Osawa.
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Habitual abortion and premature delivery are occasionally associated with a bicornuate or septate type of uterus when the abnormality is severe. A considerable improvement of reproductive performance was seen in patients who underwent plastic operation of the uterus. The procedures introduced by Strassman, Jones and Tompkins were used. Although it is still difficult to compare the postoperative reproductive history of these three surgical procedures, the procedure used by Tompkins may be technically more simple and provides for an easier entrance into the endometrial cavities in order to incise the common lower uterine segment. Primary sterility still remains a controversial indication for metroplasty and the postoperative reproductive history for this is poor.
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To evaluate the relationship between maternal prolactin (PRL) levels and post puerperal lactation, serum PRL levels in patients with pituitary adenoma were serially measured throughout pregnancy. The patients were divided into two groups. In patients in group 1 with complete resection of the adenoma by transsphenoidal surgery, the serum PRL level did not show a sharp rise with the onset of pregnancy as can be seen in normal pregnancy, but continued at low levels of 30ng/ml or lower until the term. In patients in group 2 who had successful pregnancies following incomplete resection of pituitary adenoma in combination with bromocriptine or bromocriptine therapy alone, high PRL levels were maintained from early in gestation until term. One out of 3 patients in group 1 showed good lactation despite low PRL levels during pregnancy. Conversely, in 22 patients in group 2 with high PRL levels during pregnancy, there were 3 patients with insufficient lactation. After suckling stimuli, the maternal PRL level did not rise in either group. These results suggest that the PRL level in maternal blood during pregnancy might not influence the amount of lactation in puerperium. In addition, an abnormally high or low PRL level during pregnancy did not affect the PRL level in cord blood or amniotic fluid or the growth of neonates.
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A family in which two first cousins were found to have the Prader-Willi syndrome was investigated cytogenetically. Although G-banding analysis of metaphase chromosomes failed to demonstrate abnormality, close analyses on the fine prometaphase bands by G-banding and the DA-DAPI bands by double stainings revealed a distinct chromosome abnormality in this family. A reciprocal translocation, rcp(14;15)(q11.2;q13), was detected in three family members: the mother, the maternal grandmother, and a maternal uncle of the proband. And, the proband and one of the first cousins had an unbalanced translocation that was derived from their carrier parents. The karyotypes of the affected cousins were determined as 46,XY or XX,-15, + der(14),rcp(14;15)(q11.2;q13). Therefore, they were considered to have an identical cytogenetic abnormality: a partial trisomy of the 14pter leads to q11.2 segment and a partial monosomy of the 15pter leads to q13 segment. Detailed clinical features of the proband and his affected cousin are described, main features associated with the Prader-Willi syndrome having been observed in both cousins. These observations support a definite relationship between the Prader-Willi syndrome and chromosome 15.
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