Lytt I. Gardner

Observations on the Chromosomal, Cytological and Anatomical Characteristics of 75 Human Conceptuses

Chromosome studies were successfully carried out on histologically identified tissues from 30 of 67 spontaneously aborted and eight full term products of conception. The anatomical structure of the amnion and chorion was normal in the eight full term cases and in 27 of the aborted specimens, each of which was found to have a normal chromosome complement. In three aborted specimens there were placental abnormalities consisting of hydatidiform degeneration of the chorionic villi, chorionic cysts and arborizing amniotic polyps. Giant cells were scattered through the bases, stems and dilated tips of the amniotic polyps. These abnormal cases had triploid XXY/diploid XY, triploid XXX and triploid XYY karyotypes respectively. In one specimen cultured cells from both the amnion and the embryo yielded triploid XXX karyotypes. The mean nuclear diameter of triploid amnion cells was found to be significantly greater than that of diploid amnion cells (P = 0.001) in the fresh tissue state and in tissue culture.

Trisomy 18 syndrome with absent radius, varus deformity of hand, and rudimentary thumb: Report of a case***

Summary The patient described in this report had the characteristic findings of trisomy 18 syndrome. In addition, there was absence of the left radius, severe varus deformity of the left hand on the forearm, and a rudimentary left thumb. To our knowledge these findings have not previously been reported.

Two new subvariants of virilizing adrenal hyperplasia

Summary Two new clinical subvariants of virilizing adrenal hyperplasia are described, together with a current classification of the recognized clinical patterns. The two new subvariants are virilizing adrenal hyperplasia with (1) “late” sodium loss and (2) periodic fever. 1. In the first instance a girl with virilizing adrenal hyperplasia who had shown no overt signs of sodium loss in the first year of life is described. At the age of 14 months she went into a severe sodium-losing crisis, without having a previous history of such episodes. She has required therapy with desoxycorticosterone since that time. 2. The second patient is a boy with virilizing adrenal hyperplasia who, since the early years of life, had episodes of periodic fever, headaches, and/or abdominal pain, chilly sensation and/or shaking chills, flushing of the face, head, and ears, and prostration. He occasionally had nausea and vomiting and in two instances diastolic hypotension. In most of these attacks leukocytosis was present. Plasma 17-ketosteroid analyses suggest that the episodes of periodic fever and other symptoms and signs may be related to the presence of etiocholanolone in plasma. A classification of the different subvariants of virilizing adrenal hyperplasia is presented.

Increased urinary and plasma etiocholanolone and related steroids in a boy with virilizing adrenal hyperplasia and periodic fever.

The present study describes a 16 and 8/12-year-old boy with virilizing adrenal hyperplasia and periodic fever. Urinary steroid studies suggested a severe deficiency of adrenal C-21 hydroxylation. Pregnanetroil and 17-OH-pregnanolone were increased one hundredfold in the urine. An unusually large amount of urinary etiocholanolone was found. Measurement of plasma conjugated androsterone, dehydroepiandrosterone, and etiocholanolone revealed the presence of all three with etiocholanolone present in highest concentration. Normal individuals have little conjugated etiocholanolone in their plasma. Before ACTH therapy none of these steroids was present in the free form, but after ACTH large amounts of all three in unconjugated form were found, with free etiocholanolone in highest concentration. The possibility is raised that the boys periodic fever is causally related to a defect in etiocholanolone metabolism.

Trisomy C mosaicism in a seven month old girl

A female infant, first seen at age 7 months and again at 1 3/12 years, exhibited the following physical findings: low birth weight at full term; mental and growth retardation; brachycephaly; micrognathia; high arched palate; low set, slanted malformed pinnae; scant medial eyebrow hair; small, short nose with prominent skin folds over the nasal bridge; short neck; both hands were hypoplastic between thumb and index finger; a tendency to hold thumbs in pronation; abnormal dermatoglyphics; rocker-bottom feet; big toes kept in dorsi-flexed position; mottled skin; hypoplastic clitoris and labia minora.Cytogenetic studies on the patient revealed that 83% of the karyotyped peripheral leucocytes had 46 chromosomes and 17% had 47 chromosomes. Metaphases with 46 chromosomes exhibited the normal female complement. Metaphases with a count of 47 consistently had an extra chromosome in the C group. A labelled metaphase with 47 chromosomes showed only 1 late-replicating chromosome. The sex chromatin count was positive (30%) and no buccal cells with more than one sex chromatin body were observed.

Arborizing amniotic polyps in triploid conceptuses: A diagnostic anatomic lesion?

Abstract Characteristic structural abnormalities were found in an aborted human triploid/diploid conceptus and in 2 triploid human conceptuses. Arborizing amniotic polyps were present in each of the 3 specimens. The cell constitution of the polyps was found to be partially composed of mononuclear giant cells. There was hydatidiform degeneration of the chorionic villi in each specimen, and, in the triploid/diploid mosaic specimen and one of the triploid specimens, thick-walled chorionic cysts were present. No anomaly could be detected in either of the 2 triploid embryos which were recovered. Death and ultimate abortion of triploid embryos might result from abnormalities of the placenta and fetal membranes rather than from a lethal defect in the embryo proper.

Diminished plasma 17-ketosteroid concentration in pregnancy.

Summary 1. Plasma neutral 17-ketoste-roid determinations were made on control group of 33 normal men and women, and on experimental group of 30 pregnant women at term. 2. Adult controls showed mean plasma value of 61 μg/100 ml (S.E. = 5). No significant difference was found between values obtained on normal men vs. normal, nonpregnant women (P >.05). 3. Pregnant women showed a mean plasma value of 18 μg/ 100 ml (S.E. = 2). This value is significantly lower than the mean of control adults (P <.001). 4. From the results of plasma analyses it is concluded that there is a physiological reduction in maternal elaboration of 17-ketosteroids during the last 24 hours of pregnancy. The data of other workers on urinary excretion of 17-ketosteroids in pregnancy (1-4) suggest that this finding may hold for the last third of pregnancy. Renal clearance studies will be necessary before final conclusions can be drawn. 5. It is postulated that the inner cortex of the fetal adrenal and/or the placenta take over production of 17-ketosteroids during the latter part of pregnancy.

XXXXY syndrome in a phenotypic male infant with associated cardiac abnormalities

SummaryA boy with 49,XXXXY karyotype is described with only mild mental retardation at 18 months. Physical abnormalities included patent ductus arteriosus, undescended testes, small penis, bilateral epicanthal folds, and incurved 5th digits with small middle phalanges. Literature review showed 7 previous cases of XXXXY patients with congenital heart disease. 23% of buccal cells showed 1 sex chromatin body; 26% showed 2 and 11% 3. Autoradiography demonstrated 3 heavily labelled X chromosomes. The heteropyknotic behavior of X Chromosomes in excess of one may provide some measure of protection against excessive numbers of X chromosomes, bence the relatively normal development of some XXXXY patients.

The X Isochromosome-X Syndrome [46,X,i(Xq)] Report of Three Cases with Review of the Phenotype

It is important not to confuse the 46,X,i(Xq) syndrome with the 45,X classi cal Turners syndrome. There are profound cytogenetic and clinical dif ferences between the two syndromes, which must be borne in mind in the differential diagnosis of amenorrhea and of infertility.

CARDIOVASCULAR EFFECTS OF THERAPY IN CONGENITAL HYPOTHYROIDISM.

Cardiovascular changes have long been known to occur during the early treatment of hypothyroidism. The responsible factors have not been clearly elucidated. In this study heart rate changes in three cretins were studied in a constant-environment laboratory. Within ten days after the initiation of therapy, cardiac rate increased in the three subjects as did cardiac responsivity to exteroceptive stimuli in two of the infants. Transient, potentially serious arrhythmias were also noted during therapy.