Pierre E. Ferrier

Human growth hormone

Summary A “hypopituitary” dwarf was treated during a 10-month period with human growth hormone (Raben12); there was a resultant spurt in growth associated with relatively slight, if any, maturation in body proportions and skeleton. Radiologic evidence of widening of the epiphyseal plates was noted. A constitutional or primordial dwarf was treated with similar amounts of growth hormone and failed to show significant reduction in urine nitrogen, changes in blood chemistries, or a spurt in linear growth. Neither patient had any apparent adverse reaction to the growth hormone.

Sex chromosome mosaicism in disorders of sexual differentiation: Incidence in various tissues**

Some patients with sexual anomalies have sex chromosome mosaicism. It often is stated that unless cells from multiple tissues are cultured and karyotyped, many cases of sex chromosome mosaicism will be overlooked. In the present study, involving 31 cases of Turners syndrome, 8 cases of male pseudohermaphroditism, and 4 cases of Klinefelters syndrome, an effort was made to obtain cells from other tissues, as well as from peripheral blood for culture and karyotyping. In only one instance (Turners syndrome) was there mosaicism in skin fibroblasts which was not detected in leukocyte cultures. In another patient (pseudohermaphrodite), mosaicism was present in leukocytes only. It is concluded that very few instances of sex chromosome mosaicism will escape detection if leukocyte cultures only are carried out. This finding is confirmed by the fact that in various reported cytogenetic studies involving patients with Turners syndrome, the incidence of mosaicism, as in the present study, has been about 1:3, whether leukocytes alone or leukocytes plus cells from other tissues were studied.

A male pseudohermaphrodite with a dicentric Y chromosome

SummaryA 13-year-old male pseudohermaphrodite (mixed gonadal dysgenesis, unilateral testicular differentiation) was found to be a chromosomal mosaic of the 45, XO/46, XY type, the Y chromosome being a symmetrical dicentric chromosome. Presumed Y chromosomes similar to this one have been observed before, but their identification was not supported by autoradiographic data. In the present study the identification of the dicentric as a Y chromosome was supported by observing a relatively late DNA replication during the S period. The differentiation of testicular tissue on one side may be related to the presence of short arm material of the Y chromosome in the genome of the XY dic cells.

Thyroid dysfunction associated with increased serum thyroxine-binding protein in a 12-year-old girl

A 12-year-old preadolescent girl, clinically eumetabolic, was known to have had a small goiter since the age of 7. Protein-bound iodine and radioactive iodine thyroid uptake were in the hyperthyroid range. However, the erythrocyte uptake of I 131 -labeled T 3 was at the euthyroid level. This discrepancy is thought to be the result of increased serum thyroid-binding protein, which probably also maintains the eumetabolic status of the patient.