A 22-year old female patient with psycho-motor retardation, statural hypotrophy and clinical picture characteristic of the 9p deletion syndrome, i.e., trigonocephalia (corrected surgically), epicanthus, hypertelorism, long filtrum, micrognathia, low inserted and malformed ears, filiform fingers, is presented.

Abnormalities, Multiple↗

PubMedDate not supplied

[A study of palmar flexion folds by the Perera-Kolski quantitative method in acromegaly].

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Acromegaly↗

PubMedDate not supplied

Cytogenetic investigation in 300 couples with recurrent fetal wastage.

A series of 300 couples with reproductive failure, i.e. 100 couples with a history of 2-4 spontaneous abortions (lot 1) and 200 couples with abortions and one or several dead plurimalformed children (lot 2) were cytogenetically investigated. The incidence of major chromosomal aberrations was 7% (lot 1) and 5.5% (lot 2) and minor aberrations 13% (lot 1) and 5% (lot 2). The mean percentage of chromosmal aberrations in the 300 couples was 6.03%, a figure which is close to the one reported in the literature of the recent years, i.e.6.1%.

Abortion, Habitual↗

PubMedDate not supplied

Dermatoglyphics in the virilizing polycystic ovary syndrome.

Quantitative and qualitative characteristics (form and orientation of the digital patterns, total digital ridges count, delta index, form and regional distribution of palmar patterns, palmar flexion creases, palmar delta index, atd angle, the direction of the A, B, C, and D palmar lines and the number of crests between the a, b, c, and d triradii) of digito-palmar dermatoglyphics in 33 women with virilizing polycystic ovary (VPO) were studied. The selection was made on the basis of the clinical examination and a complex bio-hormonal exploration of female patients with pilar virilism hospitalized in or treated at the outpatient clinic of the "C. I Parhon" Institute of Endocrinology between 1975 and 1984. The control lot was made up of 100 females and 100 males, clinically healthy, originally from various rural and urban areas in Romania. It was found that the VPO women come within the range of variability of the normal, with some dermatoglyphic peculiarities characteristic of the VPO syndrome; i.e., a lower total digital ridges count, and fewer ridges between the triradii at the basis of the fingers. Qualitatively, there is a preponderance of the loop-like digital patterns, especially those with radial orientation and palmar, compared to the normal, the VPO women present more frequently patterns in the interdigital space II. Palmar flexion lines indicate in VPO women a higher incidence of palmar transversal sulcus variants as compared to normal women. The existence of similar dermatoglyphic peculiarities both in VPO and in adrenogenital syndrome supports the hypothesis that the ovarian hormonogenesis disorders in the VPO syndrome may be genetically determined through an enzymatic defect.

Adult↗

PubMedDate not supplied

The role of the renin-angiotensin system in arterial hypertension in hypercorticism.

The authors have studied on 25 cases of hypercorticism, one of the mechanisms of producing arterial hypertension, the renin-angiotensin system. The study showed that in only 20% of the cases plasma renin activity was high whereas in the remaining 80% other mechanisms were responsible for the hypertension. In the cases in which the plasma activity of renin was high, by studying the changes in the value of electrolytes we were able to derive some understanding of the mechanism of action of the RA2A system. Thus, the literature data show that sometimes the excess of glucocorticoids causes hypertension by activating directly the RA2A system and concomitently inhibiting the renin-kalikrein system (RKKS) and PgS; at other times, the excess of glucocorticoids is exerted on the same renin-angiotensin system, but via ACTH and ADH, the electrolytes values being those that demonstrate the borrowed mechanism.

17-Ketosteroids↗

PubMedDate not supplied

Plasma renin activity (PRA) and plasma aldosterone in the adrenal cortex hyperactivity. Studies on 50 hypertensive patients.

The authors have studied on 50 patients hospitalized in the Adrenal Pathology unit of the Institute of Endocrinology, the etiopathogeny of arterial hypertension (AH) in hypercorticism and the therapeutic implications, arriving at the conclusion that in 20% of the cases AH was probably due to an increased activity of renin-angiotensin and in 47% to elevated levels of aldosterone. The authors hypothesize that AH in the remaining 30% of the hypercorticism cases in this study is due to other mineralocorticoids in excess and suggest that the treatment should be pathogenic and strictly individualized.

Adrenocortical Hyperfunction↗

PubMedDate not supplied

Endocrine circadian time structure in the aged.

Thirteen circadian rhythms in plasma hormone levels (ACTH, aldosterone, cortisol, C-peptide, insulin, DHEA-S, estradiol, LH, prolactin, 17-OH progesterone, testosterone, T4 and TSH) were studied in April 1981 in 25 males and 25 females 57 to 91 years of age, institutionalized at the Berceni Hospital for the aged. The radioimmunoassays and the statistical rhythmometric evaluation by the cosinor procedure were done at S. Paul-Ramsey Medical Center, St. Paul, MN, USA. Circadian rhythms were found and quantified for each of these variables. Elderly subjects of both sexes thus maintain a circadian time structure of their endocrine system as a group phenomenon. In comparison with previous data from the Endocrine Rhythms Laboratory ("C. I. Parhon" Institute) and series of younger subjects studied in Minnesota (St. Paul-Ramsey Medical Center) as well as in comparison with data published from other centers, the aged seem to experience an earlier arousal of their endocrine system which may be related to certain disturbances of old age e.g. of sleep. The latter observations will have to be confirmed by additional studies which take both circadian and circannual variations in account.

Age Factors↗

PubMedDate not supplied

Studies of the reproduction function in hyper- and hypoadrenocorticism.

The investigation was carried out on 66 patients with hypo- or hyperfunctional syndromes of adrenocorticism, hospitalized and treated by our team. The patients were grouped into 5 lots according to their diseases. Lot one consisted of 34 female patients with Cushing's syndrome, lot two of 10 males with Cushing's syndrome, lot three of 10 males with Addison's disease and lot four, of 6 females with androgenic hypercorticism. The morphofunctional disorders of reproduction were followed up clinically and by complex hormone assays, before and after treatment. The incidence of these disorders is very high, and the results of clinical observations and of laboratory data demonstrate that both the excess of adrenocortical hormones and the decrease in their circulating level have a negative influence on the reproduction function or represent a risk factor in cases of pregnancy. By the curative treatment of the adrenal cortex a preventive treatment of abortion and/or sterility is achieved.

Adrenal Insufficiency↗