To determine if soluble interleukin 2 (IL-2) receptor measured in serum by an enzyme-linked immunosorbent assay (ELISA) might be useful in managing patients with karyotypically normal spontaneous premature ovarian failure.
A survey of 108 heterozygote women for the classic galactosemia gene, GALT, did not reveal that the carrier state was associated with premature ovarian failure or ovarian cancer.
While translocations in the region may lead to ovarian dysfunction by disrupting normal meiosis or by a position effect, two recent reports of patients with premature ovarian failure and Xq deletions suggest that there is a gene (POF1) localized to Xq21.3-q27 [Krauss et al., N Engl J Med 317:125-131, 1987; Davies et al., Cytogenet Cell Genet 58:853-966, 1991] or within Xq26.1-q27 [Tharapel et al., Am J Hum Genet 52:463-471, 1993] responsible for POF.(ABSTRACT TRUNCATED AT 250 WORDS)
We have cloned the mouse AT2 receptor gene (Agtr2) and determined its map position by linkage analysis using an interspecific backcross (C57BL/6J x Mus spretus).Agtr2 is located on the proximal mouse X chromosome between DXMit85 and DXMit49, in a region of conserved synteny with a part of the human X chromosome implicated in inherited forms of premature ovarian failure.
We have cloned the mouse AT2 receptor gene (Agtr2) and determined its map position by linkage analysis using an interspecific backcross (C57BL/6J x Mus spretus).Agtr2 is located on the proximal mouse X chromosome between DXMit85 and DXMit49, in a region of conserved synteny with a part of the human X chromosome implicated in inherited forms of premature ovarian failure.
Hyperactivity of the FSH axis caused by activating mutations of the FSH receptor gene might parallel the presentation of FSH secreting pituitary adenomas with Sertoli cell hypertrophy in men (Heseltine et al., 1989) or reversible premature ovarian failure in women (Moses et al., 1986; Okuda et al., 1989).
Hyperactivity of the FSH axis caused by activating mutations of the FSH receptor gene might parallel the presentation of FSH secreting pituitary adenomas with Sertoli cell hypertrophy in men (Heseltine et al., 1989) or reversible premature ovarian failure in women (Moses et al., 1986; Okuda et al., 1989).
One hundred nineteen women with karyotypically normal spontaneous premature ovarian failure (FSH exceeding 40 mIU/mL) who desired fertility were evaluated at a tertiary care academic center by physical examination, measurement of serum free thyroxine and TSH, ACTH stimulation test, fasting serum glucose, 3-hour glucose tolerance test, measurement of serum electrolytes including total calcium, and measurement of serum vitamin B12.
One hundred nineteen women with karyotypically normal spontaneous premature ovarian failure (FSH exceeding 40 mIU/mL) who desired fertility were evaluated at a tertiary care academic center by physical examination, measurement of serum free thyroxine and TSH, ACTH stimulation test, fasting serum glucose, 3-hour glucose tolerance test, measurement of serum electrolytes including total calcium, and measurement of serum vitamin B12.
In this study, we postulated that the patients with premature ovarian failure, which has been reported to be linked with X-chromosome abnormality, have AT(2) receptor mutation that may contribute to the early onset of atresia.
In this study, we postulated that the patients with premature ovarian failure, which has been reported to be linked with X-chromosome abnormality, have AT(2) receptor mutation that may contribute to the early onset of atresia.
We propose that the human DIA gene is one of the genes responsible for POF and that it affects the cell divisions that lead to ovarian follicle formation.
It was suggested that several murine genes, including Zfx, c = kit, and the kit ligand, should be fertile candidates for investigation of the etiology of POF in human families.
We propose that the human DIA gene is one of the genes responsible for POF and that it affects the cell divisions that lead to ovarian follicle formation.
We studied five groups of women with ovarian dysfunction for the CGG expansion in FMR1 and a (TA)n polymorphism in the estrogen receptor gene: a) poor responders to ovarian stimulation as part of in vitro fertilization (n = 13); b) women with familial premature ovarian failure (POF) (n = 7); c) sporadic cases with POF (n = 16); d) FRAXA premutation carriers with POF (n = 7); and e) FRAXA premutation carriers without POF (n = 9).
A significant association of familial POF and FRAXA premutation carriers with POF having low copy of the (TA)n polymorphism as compared to controls was observed.