1/6. An earlier menopause as clinical manifestation of granulosa-cell tumor: a case report.We present a case of a granulosa-cell tumor, which can cause menopause at an earlier than normal age. The hormonal profiles were characterized by undetectable FSH levels associated with an estradiol level compatible with the level seen in perimenopausal women and by a significant increase in the inhibin level.- - - - - - - - - - ranking = 1keywords = cell (Clic here for more details about this article) |
2/6. New polymorphism and a new chromosome breakpoint establish the physical and genetic mapping of DXS369 in the DXS98-FRAXA interval.Recently some of us cloned a new probe RN1 (DXS369), which appears a close marker for the fragile X locus (FRAXA) [Oostra et al.: genomics 1990]. We present here new evidence for its physical and genetic mapping in the DXS98--FRAXA interval. We used 2 different somatic cell hybrid lines with breakpoints in the Xq27-q28 region: L10B Rea and PeCHN, and we established the order: (DXS105, DXS98)-L10B Rea-DXS369-PeCHN- (DXS304, DXS52). We detected an additional TaqI RFLP at the DXS369 locus which increases its informativeness up to 57%. Two point linkage analysis in a large set of families gave high lod scores for the FRAXA-DXS369 linkage (z(theta) = 10.1 at theta = 0.044) and for DXS369-DXS304, a marker distal to FRAXA (z = 19.2 at theta = 0.070). By multipoint analyses we established the localization of DXS369 in the DXS98-FRAXA interval. DXS369 is a much closer proximal marker for FRAXA than DXS105 or DXS98 and any new probe mapping between the breakpoints in L10B Rea and PeCHN will be of potential interest as a marker for FRAXA.- - - - - - - - - - ranking = 0.2keywords = cell (Clic here for more details about this article) |
3/6. Partially compensated hypoadrenalism presenting with persistent skin pigmentation.A 33-year-old female presented in 1966 with striking pigmentation, typical of Addison's disease, and amenorrhea. Endocrine assessment then showed normal basal serum cortisol and urinary hydroxysteroid levels, but serum cortisol did not respond to stimulation with either exogenous ACTH or lysine vasopressin. Steroid replacement treatment was started. Treatment was discontinued by the patient on her own initiative and after some yr she was lost to follow-up. Reassessment in 1986 showed a pigmented patient who had continued in good health. She had a normal basal serum cortisol level with circadian variation. plasma ACTH levels were high but showed diurnal rhythmicity and suppressed incompletely with 2 mg or 8 mg of dexamethasone/24 h. plasma aldosterone levels were normal and showed appropriate postural changes, but plasma renin levels were high. This patient has an immunological profile of autoimmune disease with positive adrenal, thyroid microsomal and gastric parietal cell antibodies with a history of a premature menopause which may also be of autoimmune origin. She has been seen over a 20-yr period and despite her appearance still has no biochemical evidence of glucocorticoid or mineralocorticoid deficiency. It is suggested that the patient had compensated hypoadrenalism, with serum cortisol levels maintained in the normal range by high plasma ACTH levels and serum aldosterone levels maintained by high renin levels. The long term result of the high ACTH levels was increased skin pigmentation.- - - - - - - - - - ranking = 0.2keywords = cell (Clic here for more details about this article) |
4/6. Pregnancies after premature ovarian failure.Six women who conceived after a diagnosis of premature ovarian failure are discussed. Two pregnancies occurred while the women were receiving conjugated estrogen therapy, two while taking oral contraceptives, and two women conceived spontaneously. The possible role of exogenous estrogens in sensitizing the granulosa cells to the effect of follicle-stimulating hormone and thereby inducing ovulation and conception in some women with premature ovarian failure is examined.- - - - - - - - - - ranking = 0.2keywords = cell (Clic here for more details about this article) |
5/6. Replication and inactivation of an isodicentric X: presence of an inactive centromere influences the replication patterns.An isodicentric X-chromosome (idic(X)(pter leads to q23::q23 leads to pter)) was found in a phenotypically normal 30-year-old female with symptoms of premature menopause. A study of dna replication revealed that in a proportion of cells there was an asymmetric pattern of replication. The region with the inactive centromere had a tendency to replicate later than the portion with the functioning centromere.- - - - - - - - - - ranking = 0.2keywords = cell (Clic here for more details about this article) |
6/6. Reduced fertility in women with x chromosome abnormality.One patient with the karyotype 46,X,del(X)(p11.23) and three patients with 45,X/46,XX mosaicism were fertile or showed normal ovarian function. The patient with the Xp deletion has two daughters with the same chromosomal abnormality. A study of these patients and of others reported in the literature indicated that fertility of patients with X chromosomal abnormality has a markedly shorter duration than fertility of the normal female. menopause commonly occurred during the second and third decade of age. We suggest that such fertility is related to the rate of germ cell attrition and hypothesize that germ cell attrition in the human female is influenced by genes of multiple effect which are carried on the x chromosome. The more of these genes which are present the slower the rate of germ cell attrition.- - - - - - - - - - ranking = 0.6keywords = cell (Clic here for more details about this article) |