A dominant-hereditary variation of the Pena-Shokeir syndrome; a case report.

Four children with the Pena-Shokeir syndrome are described. Apart from the classical manifestations of the syndrome: camptodactyly, ankyloses, facial anomalies, pulmonary hypoplasia, all four children had an extremely rigid skin. Possibly this rigidness of unknown origin led in these cases to fetal akinesia, which seems to be the explanation of the clinical manifestations of the syndrome. All children were born to one man, three in his first marriage, one in his second. Therefore this case report almost certainly presents a dominant-hereditary variation of the syndrome.

Further delineation of the Yunis-Varon syndrome.

A boy with intrauterine growth retardation, microcephaly, dysostosis of the skull, hypoplastic facial bones, labiogingival retraction, agenesis of the clavicles, distal aphalangia, and severely hypoplastic thumbs and halluces is described. The features are consistent with the Yunis-Varon syndrome. Review of published reports shows this to be a generalised disorder with variable manifestations in the skeletal, ectodermal, and cardiovascular systems. The consanguinity of the parents of the present case is in agreement with autosomal recessive inheritance.

The endogenous concentration and subcellular distribution of androgens in normal human premenopausal endometrium, myometrium and vagina.

The endogenous concentrations of testosterone (Testo), androstenedione (Adion), 5-androstene-3 beta, 17 beta-diol (Adiol), dehydroepiandrosterone (DHEA) and DHEA-sulfate (DHEAS) have been measured in endometrium, myometrium and vagina from 23 premenopausal women at different stages of the cycle. The tissue to plasma gradient was positive for all androgens except DHEAS; a significant correlation existed between plasma and tissue levels of Adiol and DHEAS. In all tissues significant correlations were calculated between Adiol and DHEA, Adion and Testo, and Adiol and DHEAS. Except for Testo, androgen concentrations were different in the tissues with a significant correlation between the tissues, each tissue seeming to be able to create its own specific intratissue androgen pattern. During the cycle Testo was highest in myometrium and vagina and Adion in myometrium and endometrium during the secretory phase. Except for DHEA, androgens were preferentially localized in the cytosol fraction of the cells. From this localization and the known inhibitory effects of androgens on the activity of estrogen metabolizing enzymes, it is postulated that androgens play a role in enzymatic rather than receptor-mediated processes in uterine cells.

Fetal treatment for thyrotoxicosis in non-thyrotoxic pregnant women.

Euthyroid or even hypothyroid pregnant women without antithyroid medication but with a history of treatment for thyrotoxicosis, almost always a subtotal strumectomy, may still produce thyroid-stimulating immunoglobulins. This can induce fetal and neonatal thyrotoxicosis. Without treatment this results in a high fetal and neonatal mortality and morbidity. Fetal treatment by administering antithyroid drugs during pregnancy improves this prognosis remarkably. A case is described, the literature is reviewed and guidelines for diagnosis and treatment are presented.

The endogenous concentration of estradiol and estrone in pathological human postmenopausal endometrium.

The endogenous estrone (E1) and estradiol (E2) levels (in pg/g tissue) were measured in 7 postmenopausal patients with a hyperplastic endometrium, in 3 with an atypical adenomatous hyperplastic endometrium and in 13 with a carcinomatous endometrium. These tissue concentrations were compared with the E1 and E2 concentrations in plasma (pg/ml) and with data from a control group of postmenopausal women with atrophic endometria. The tissue levels of both steroids showed large variations and there were no significant correlations with their plasma levels. In the hyperplastic and the atypical adenomatous hyperplastic group the mean E2 tissue level was higher compared with the mean E1 tissue level, despite the excess of E1 over E2 in peripheral plasma. In the carcinomatous group the mean E1 tissue level was higher, although not significantly, than the mean E2 tissue level. There were no significant differences between the E1 and E2 tissue levels in the three different pathological groups as compared to the atrophic control group. We conclude that it is unlikely that estrogens alone play a crucial role in the development of a pathological endometrium.

Neonatal thyrotoxicosis treated with exchange transfusion and Lugol's iodine.

An infant with neonatal thyrotoxicosis was born to a mother who had become euthyroid after subtotal thyroidectomy for Graves' disease. Exchange transfusion resulted in a 50% decrease of serum thyroxine levels and thyroid stimulating immunoglobulins. After 10 days mild thyrotoxic signs reappeared with high serum thyroxine levels, which were treated successfully with Lugol's iodine for 4 weeks. TSI was undetectable at 7 weeks of age. TSI was present in breast milk.

The endogenous concentration of estradiol and estrone in normal human postmenopausal endometrium.

The endogenous estrone (E1) and estradiol (E2) levels (pg/g tissue) were measured in 54 postmenopausal, atrophic endometria and compared with the E1 and E2 levels in plasma (pg/ml). The results from the tissue levels of both steroids showed large variations and there was no significant correlation with their plasma levels. The mean E2 concentration in tissue was 420 pg/g, 50 times higher than in plasma and the E1 concentration of 270 pg/g was 9 times higher. The E2/E1 ratio in tissue of 1.6, was higher than the corresponding E2/E1 ratio in plasma, being 0.3. We conclude that normal postmenopausal atrophic endometria contain relatively high concentrations of estradiol and somewhat lower estrone levels. These tissue levels do not lead to histological effects.