Cases reported "hirsutism"

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1/178. Virilizing ovarian dermoid cyst with peripheral steroid cells. A case study with immunohistochemical study of steroidogenesis.

    A case of virilizing ovarian dermoid cyst with peripheral steroid cells and virilization is reported in a 62-year-old woman. The level of testosterone dropped to normal after oophorectomy. The cyst wall was bordered by a discontinuous band of steroid cells focally accompanied by smooth muscle cells. Immunohistochemically, the steroid cells were enzymatically active and displayed a profile similar to the internal theca cells of ovarian follicles. These steroid cells were most probably modified stromal cells associated with smooth muscle metaplasia of the ovarian stroma. ( info)

2/178. Autosomal dominant inheritance of Barber-Say syndrome.

    We report on a mother-to-son transmission of the Barber-Say syndrome, a finding that strongly supports dominant inheritance of this rare disorder. The characteristic facial changes, small ears, hirsutism, and redundant skin of our patients are consistent with the findings of five reported cases. The mother also had cleft palate and mild conductive hearing loss. Her son had a shawl scrotum, primary hypospadias, and mild hearing loss by report. The inheritance of this rare disorder has not been established. The parent-to-child transmission in this family suggests X-linked or autosomal dominant inheritance. The parents of the patient reported by Santana et al. [1993: Am. J. Med. Genet. 47:20-23] were consanguineous, suggesting autosomal recessive inheritance in other cases. ( info)

3/178. Unilateral macronodular adrenal hyperplasia as an unusual cause of Cushing's syndrome--a case study.

    To appraise clinicians of the problems that may be encountered in the diagnosis and management of Cushing's syndrome, we present a case report of a 20-year old female, who was admitted with a recently developed central obesity, ammenorrhea hirsuitism, proximal myopathy and depression. She was found to have multiple striae, thin skin, elevated blood pressure glycosuria and hyperglycaemia. Morning and mid-night plasma cortisol concentrations revealed elevated levels, with a loss of diurnal variation. There was a failure of the normal suppressibility of cortisol secretion by low doses of dexamethasone, while a significant suppression of plasma cortisol concentration was observed with high doses of dexamethasone. There were no significant abnormalities observed in the pituitary fossa on skull radiograph and on the cranial computerised tomographic scan. After a period of stabilisation, she had a bilateral adrenalectomy done, with a histopathological finding of a left adrenal macronodular hyperplasia, while the right adrenal gland was small and friable. There was an uneventful post-operative period, with a gradual return to normality of most of the presenting complaints. The hyperglycaemia and hypertension got controlled without medications, while her menstrual cycles resumed within three months of bilateral adrenalectomy. This case report illustrates that an adrenal-dependent Cushing's syndrome may mimic a pituitary-dependent one, especially as regards the suppressibility of plasma cortisol secretion by high doses of dexamethasone. ( info)

4/178. Brachmann-de lange syndrome: a cause of early symmetric fetal growth delay.

    Brachmann-de lange syndrome is characterized by pre- and postnatal growth retardation, microbrachycephaly, hirsutism, various visceral and limb anomalies and a typical face. A sonographic prenatal diagnosis at mid-trimester is reported in a case of severe, symmetrical fetal growth delay at 20 weeks gestation, with a thickened skin on the forehead, a small nose and a marked depressed nasal bridge, a long philtrum, micrognathia and a persistently flexed right forearm, with a single bone associated to oligodactyly. Due to the severe mental impairment with a commonly estimated intelligence quotient under 60, the pregnancy was terminated after parental consent. ( info)

5/178. Three cases of macroprolactinaemia.

    A woman with hirsutism but otherwise symptom-free was found to have a raised serum prolactin and a pituitary microadenoma. The hyperprolactinaemia persisted despite bromocriptine therapy and subsequent pituitary surgery, which yielded a non-functioning adenoma. After a further 15 years with persistent hyperprolactinaemia but no symptoms, macroprolactinaemia was diagnosed. Such cases might account for part of the failure rate of pituitary microsurgery for prolactinoma. Testing for macroprolactinaemia is advisable in a woman with hyperprolactinaemia, especially if her ovulatory cycle is normal. Two other cases are reported in which macroprolactinaemia was associated with menstrual disturbances and other hormonal effects: in these, treatment with dopamine agonists suppressed the hyperprolactinaemia and restored normal menstrual cycles. ( info)

6/178. Comparison of spironolactone, flutamide, and finasteride efficacy in the treatment of hirsutism: a randomized, double blind, placebo-controlled trial.

    To compare objectively the efficacies of spironolactone (100 mg/day), flutamide (250 mg/day), and finasteride (5 mg/day) in the treatment of hirsutism, 40 hirsute women were randomly assigned to double blind treatments with 1 of these 3 drugs or placebo for 6 months. Before and at the end of treatment, hirsutism was quantitatively measured in each subject by determination, by computer-assisted light microscopy, of the largest diameter of 5 hairs plucked from the linea alba. These measurements were averaged to produce a mean hair shaft diameter. For each subject, baseline and posttreatment assessments were carried out at the same time by an investigator blinded to both time and type of therapy. In addition, a semi-quantitative clinical evaluation was carried out by a modification of the Ferriman-Gallwey (F-G) scoring method, performed by a single investigator. At baseline the 4 groups of women had similar hair diameters and F-G scores. After 6 months of therapy all groups of subjects given active drugs showed reductions of their hair diameters, without statistically significant differences among groups (mean change /- SEM, -11.7 /-5.6%, -18.0 /-6.1%, and -12.6 /-6.7%, respectively, in the spironolactone, flutamide, and finasteride groups). F-G scores were also significantly reduced in women receiving antiandrogen drugs, again without differences among groups (mean change, -41.0 /-5.5%, -38.9 /-7.2%, and -31.6 /-3.7%, respectively). No significant changes from baseline values were recorded by either hair diameter (-1.4 /-5.2%) or F-G score ( 5.4 /-3.7%) assessment in the placebo group. In conclusion, spironolactone, flutamide, and finasteride are all effective in the treatment of hirsutism. After a 6-month course of therapy, the clinical efficacies of these drugs, at least at the doses used, are similar. ( info)

7/178. Hypersecretion of ovarian androgens may be gonadotrophin dependent many years after menopause.

    BACKGROUND: In fertile women both adrenals and ovaries contribute to androgen production, whereas after the menopause the ovarian contribution normally decreases. OBJECTIVE: The objective of this case study was to assess whether ovarian androgen secretion was responsive to decreased gonadotrophin stimulation and whether gonadotrophins were sensitive to negative feedback from sex steroids many years after the menopause. methods: In this uncontrolled case study a 72 years old slightly overweight woman with noninsulin-dependent diabetes mellitus presented with hirsuitism and elevated serum testosterone concentrations. The woman was reluctant to have an oophorectomy, and received an oral estradiol/progestagene preparation. serum testosterone and gonadotrophin concentrations were measured before and after steroid hormone therapy. RESULTS: serum gonadotrophin concentrations decreased and testosterone levels returned to normal during therapy. When the hormone therapy was stopped for 1 month the high testosterone concentrations returned, but were again normalized when the hormone therapy was reinitiated. CONCLUSION: The ovaries of this woman were apparently still responsive to pituitary stimulation and her hypothalamic pituitary ovarian feed-back system still seemed to be working after 70 years of age. ( info)

8/178. A patient with congenital hypertrichosis, gum hyperplasia and macromastia.

    A syndrome of congenital hypertrichosis, hirsutism, gum hyperplasia and macromastia is described. The patient was demonstrated to have mild hyperinsulinemia with normal oral glucose tolerance test. This is the second such patient reported in the literature. ( info)

9/178. Use of a long-acting gonadotrophin-releasing hormone analogue in a postmenopausal woman with hyperandrogenism due to a hilus cell tumour.

    OBJECTIVE: The aim of this study was to prove the utility of GnRH analogues for the suppression of androgen secretion in a postmenopausal woman with a suspected virilizing ovarian tumour. DESIGN AND methods: We present a case of a 72-year-old woman with virilization of recent onset. Hormonal studies revealed a fourfold increase in serum testosterone levels, normal dehydroepiandrosterone sulphate concentrations and high levels of serum 17-hydroxyprogesterone levels. Computed axial tomography scan of the ovaries was normal and the adrenal glands showed a discrete enlargement. The long-acting GnRH analogue, triptorelin, was injected initially (3.75mg i.m.) and serum hormone levels were measured weekly throughout one month. RESULTS: GnRH produced a decrease in serum testosterone levels to normal values, in parallel with the suppression of serum LH and FSH concentrations. The patient was treated for three months with triptorelin and she experienced an amelioration of the hyperandrogenic symptoms. In order to achieve a diagnosis, the patient was submitted to a laparotomy that revealed a small hilus cell tumour in the left ovary. CONCLUSION: GnRH analogues may offer a good therapeutic option in some states of gonadotrophin-dependent hyperandrogenism of ovarian origin. ( info)

10/178. Candidate region for Coffin-Siris syndrome at 7q32-->34.

    Coffin-Siris syndrome is characterized by intrauterine growth retardation, mental deficiency, coarse face, hypoplastic fifth fingers and nails, hirsutism, and initial difficulties with feeding. The etiology of this syndrome is unknown. We report on an 11-year-old girl with Coffin-Siris syndrome and a de novo, apparently balanced reciprocal translocation between chromosomes 7 and 22 [t(7;22)(q32;q11.2)]. The 7q breakpoint in our patient is very similar to the breakpoint reported in a previous case [McPherson et al., 1997: Am J Med Genet 71:430-433] with a balanced t(1;7)(q21.3;q34). Together, these patients provide evidence that the region 7q32-->34 is a candidate region for the gene responsible for Coffin-Siris syndrome. ( info)
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