Cardiac abnormalities in female hypogonadotropic hypogonadism with anosmia.
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Biomedical subjects
Publications and source records attributed to E Kemmann.
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The cases of two women who show postmenopausal bleeding and signs of endogenous estrogen production are presented. At laparotomy, ovarian hyperthecosis was found and confirmed histologically. Determination of 17 beta-estradiol concentrations in ovarian and peripheral veins suggested that these ovaries actively secreted excessive estrogens. Ovarian hyperthecosis is discussed as a cause of renewed endogenous estrogen activity in the postmenopausal women.
A pregnant woman is presented who developed transient nephrogenic diabetes insipidus. The patient had chronic hypertension with evidence of superimposed toxemia. The association of nephrogenic diabetes insipidus and pregnancy is reviewed. To our knowledge this is the first description of a patient who developed nephrogenic diabetes insipidus during pregnancy.
Four women with primary amenorrhea and hyperprolactinemia are presented. These patients started thelarchal and pubarchal development but never had a spontaneous menses. Hypothyroidism was not demonstrable in these patients. The causes for hyperprolactinemia in these patients and the clinical follow-up are discussed. In the authors' experience, hyperprolactinemia is seen in about one third of women with normogonadotropic primary amenorrhea, and primary amenorrhea is seen in about 3% of women with hyperprolactinemia.
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Plasma prolactin concentrations were determined in 16 nonovulatory women during treatment with human meonpausal gonadotropins (hMG). In eight patients with initially normal prolactin levels of less than 20 ng. per milliliter, a significant rise was noted at the end of hMG administration, this is thought to be a response to increased endogenous estrogen concentrations. A similar rise in plasma prolactin levels was seen in some but not all of the eight patients with initially elevated "basal" prolactin concentrations. Three of these hyperprolactinemic patients had radiographic evidence of a pituitary lesion--either a pituitary adenoma or a "microadenoma"--but the variance in prolactin response could not be explained on this basis. The two groups of normo- and hyper-prolactinemic patients showed no significant difference in the required dosage and duration or hMG treatment, plasma estradiol-17 beta response, and ovulatory and pregnancy outcome.
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Results of gonadal karyotyping on 26 patients with cyclic or acyclic ovarian activity and hypogonadotropic or hypergonadotropic hypogonadism are presented. Gonadal culture growth, with the exception of tissue from polycystic ovaries, was usually successful. With one exception, leukocytic and gonadal karyotypes were concordant. Normal ovarian function did not appear to be limited to ovaries of the 46,XX karyotype.
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A report of a patient with amenorrhea and galactorrhea who was shown, by tomopneumoencephalogram, to have an empty sella is presented. Endocrinologic testing revealed only a blunted human growth hormone response to insulin-induced hypoglycemia and acyclicity of plasma gonadotropins. Thyroid testing, ACTH, and metopirone responses were normal. In addition, plasma prolactin levels were found to be within the normal range. Most significantly, after the pneumoencephalogram the patient's menses returned and have continued at regular monthly intervals for 6 months. During this time there has been a significant decrease in the galactorrhea. This is the first patient described with an empty sella and galactorrhea. The clinical and endocribologic aspects of the empty sella are discussed.
Two hundred and fifty-seven hysteroscopic examinations were performed on patients who complained primarily of infertility and abnormal uterine bleeding. Organic intrauterine lesions were identified, and correlations were made with preoperative hysterograms and the tissue obtained for pathologic evaluation. The technique proved of special value for the location and resection of intrauterine devices. Failure to observe the cavity adequately and to complete the examination occurred in 20 (8%) of the patients. The most serious complication, uterine perforation, occurred in five instances but did not require additional treatment.
The clinical syndrome of OGD in the female is displayed as hypogonadism and most commonly type I hyposmia ("anosmia"). The main pathologic findings are absence of the olfactory bulbs and tracts, hypoplasia of the hypothalamus, a normal pituitary gland, and normal appearing, although unstimulated, ovaries. The syndrome of OGD may be considered as an attenuated form of holoprosencephaly. Various facial abnormalities have been observed in patients with OGD and their families. Thorough neurologic examination may reveal other abnormalities. In the majority of cases the etiology of OGD is not known; however, among about one-fourth of the females, other members of the family exhibit either OGD or anosmia, implying a genetic basis. In this familial form of OGD some pedigrees suggest an X-chromosomal pattern and others, an autosomal inheritance pattern. Although hypogonadotropic hypogonadism is usually considered the only endocrinologic abnormality, stimulatory test of pituitary and hypothalamic function may reveal poor responses of growth hormone. ACTH, prolactin, and possibly MSH. The administration of LRH has shown varying pituitary gonadotropin responses, implying, in some instances, an associated pituitary malfunction. However, these observations may be the result of variations in technic and, therefore, further data are necessary to clarify this issue. Cyclic estrogen and progestin administration stimulates secondary sexual sex characteristics. Exogenous gonadotropins are capable of stimulating ovarian steroidogenesis and, in most patients, inducing ovulation. Thre pregnancies have been reported.
In a series of 177 anovulatory patients, x-ray studies of sella turcica revealed 4 patients with pituitary adenomas and 1 with an empty sella. Galactorrhea was present in 15 patients (8.5%) of the total series, but 4 of the 5 patients with pituitary abnormalities also showed galactorrhea. As patients were frequently unaware of the presence of milk in their breasts, careful examination by the physician will delineate a population at high risk for pituitary abnormalities. Clinical and endocrinologic characteristics of the 5 patients with pituitary abnormalities are presented and their management is discussed.
Hysterosopic examinations were performed on 22 patients for IUDs suspected of being misplaced or embedded. Devices included 11 Majzlin springs, nine Lippes loops and two other types. Preoperative preparation and hysteroscopic techniques for extraction are described.
An 18-year-old woman with anosmia and hypogonadotropic hypogonadism is presented. In addition endocrinologic evaluation revealed an apparent deficiency in pituitary growth hormone secretion in response to hypoglycemia and an ovarian insensitivity to exogenous gonadotropins. The ovaries, which on histologic examination appeared to be normal, upon karyotyping showed a chromosomal mosaicism, probably 46, XX/47, XXF+.