[Xeroderma pigmentosum and polycystic ovaries. An association not previously described. A case report]. / Xeroderma pigmentoso y ovarios poliquísticos. Una asociación no descrita. A proposito de un caso.

The case is presented of an 18 year old female patient who was diagnosed at the age of 2 of Xeroderma pigmentosum (XP), and that at the age of 17 presented amenorrhea and hirsutism with 18 months evolution, and diagnosed of polycystic ovaries (PCO). The possible causes of this rare association which has not been previously described are discussed.

Syndrome of 'inappropriate secretion of thyroid-stimulating hormone' by partial target organ resistance to thyroid hormones.

A 74 year old woman was found to have elevated serum thyroid-stimulating hormone (TSH) levels and elevated serum thyroid hormone levels, with clinical euthyroidism. There was no evidence of a pituitary tumor. TSH levels increased substantially during methimazole therapy. Administration of dexamethasone was followed by a prompt fall in serum TSH levels. Triiodothyronine (T3) was administered over a period of 20 days in doses from 25 micrograms to as much as 100 micrograms daily causing a rise in serum T3 above 700 ng/100 ml, a decline of T4 and a blunting of the response to thyrotrophin-releasing hormone (TRH), with normal metabolic responses (pulse rate, photomotogram, cholesterol). These results suggest that the patient's disorder is due to partial target organ resistance to thyroid hormones.

[Variations of the plasma levels of gonadotrophins (FSH and LH) and of its response to stimulation with gonadotrophin releasing hormone (GnRH) with different plasma levels of prolactin (PRL) in women with the syndrome of galactorrhea-amenorrhea (author's transl)]. / Variaciones de la tasa plasmática de gonadotrofinas (FSH y LH) y de su respuesta al estímulo con hormona liberadora de gonadotrofinas (GnRH) ante distintos niveles plasmáticos de prolactina (PRL) en mujeres con síndrome de galactorrea-amenorrea.

In 15 women with either isolated amenorrhea or amenorrhea associated to galactorrhea the basal levels of PRL allowed a clear differentiation into three groups. The first group (n = 3) had normal PRL levels (x +/- SD, 8.0 +/- 4.8 ng/ml), the second group (n = 4) had moderately elevated PRL (25.6 +/- 6.5 ng/ml), and the third group (n = 8) had very high PRL (176.0 +/- 76.1 ng/ml). All the patients in the third group had a pituitary adenoma. In the three groups the basal levels of FSH and LH and their response to GnRH were measured with the purpose of uncovering possible relationships between these results and the levels of PRL, and the tumoral or non-tumoral origin of the hyperprolactinemia when it was present. No statistically significant differences were found amongst the three groups. The results suggest that hyperprolactinemia has no influence upon gonadotrophin release or the endogenous release of GnRH. The measurement of plasma gonadotrophins and their response to GnRH appears to be of no clinical value for the differential diagnosis of the hyperprolactinemias.

[Response of prolactin to thyrotrophin-RH(TRH) and chlorpromazine stimulation in the syndrome of hypogonadism and anosmia (author's transl)]. / Respuesta de la prolactina a los estímulos de torotrofina-RH(TRH) y clorpromacina en el síndrome hipogonadismo-anosmia.

Basal and stimulatory tests of FSH, LH and PRL are reported in three cases of hypogonadism-anosmia syndrome (Maestre-Kallmann-De Morsier syndrome), two of whom were brothers. Basal FSH levels were low (mean = 1.7 mU/ml) and did not respond to the first acute stimulation with intravenous LRH (x = 2.3 mU/ml), but after intramuscular LRH, 500 microgram/day for 10 days, a clear-cut response was noted in two patients (from a mean of 7.8 mU/ml to 16.8 mU/ml), while the other patient continued without response. Low basal LH levels (mean 1.8 mU/ml) responded poorly to the first LRH stimulation (mean 4.6 mU/ml), while after intramuscular LRH for 10 days there was a marked increase in all three cases (mean 29.7 mU/ml). In no case was there a response to clomiphene. With regard to PRL, all cases had a clear response to TRH, although it was subnormal in two of them. Opposite results were obtained in one case of Klinefelter's syndrome, namely, elevated basal PRL levels (44 ng/ml) with an exaggerated response to TRH. Chlorpromazine administration caused an elevation of PRL to 43 and 30 ng/ml, respectively, in the two patients with a subnormal response to TRH, while the third case responded less than to TRH. In conclusion, the response to TRH of FSH and LH with lack of response to clomiphene supports the hypothalamic nature of the hypogonadism, while the response of PRL to both TRH and chlorpromazine, along with the normal levels of the remaining pituitary hormones (ACTH, TSH and STH) demonstrate the selectivity of the hypothalamic lesion whereby only gonadotrophin control is impaired.

[Bloom's syndrome. A case with deficit of growth hormone (author's transl)]. / Déficit de hormona de crecimiento en u caso de síndrome de Bloom.

A girl with Bloom's syndrome is reported. We have not found chromosomic or inmunoglobulin alterations, in opposition to described by other. We remark, for the first time in medical literature, a deficit of GH secretion without response to several stimulus. The other hormonal explorations were normal. We don't know if, that finding will be of pathogenic importance for the stunted growth of Bloom's syndrome or this is a casual association. Anyway, the good therapeutic results with the exogenous human growth hormone administration, is of a great interest for the investigation of pituitary GH reserve in any case of Bloom's syndrome.