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Biomedical subjects

D L Rimoin

Publications and source records attributed to D L Rimoin.

At least 271 records · Page 15Linked to original sources

Metabolic studies in the African pygmy.

Major metabolic effects of human growth hormone (HGH) were assessed in the African Babinga pygmy. Plasma free fatty acid (FFA) and glucose concentrations were measured in pygmies, HGH-deficient dwarfs, Bantu tribesmen, and Caucasian controls after each received 4 mg of HGH intravenously over a 20 min period. Pygmies had an early decrease of plasma FFA and glucose concentration, but did not exhibit a later lipolytic response. In neighboring Bantu tribesmen, American controls, and HGH-deficient dwarfs, both the early and late responses to intravenous HGH were present. The failure of plasma FFA concentration to increase in the pygmy after intravenous HGH was not due to a generalized defect in lipolysis since a normal lipolytic response was obtained with epinephrine (2 mug/min for 20 min).Pygmies, like HGH-deficient dwarfs, had significantly reduced insulin responses to both oral glucose and arginine. Insulin secretion was significantly reduced when compared with either Bantu tribesmen or American controls and was not altered by 2 wk of a high carbohydrate/high protein diet. HGH treatment in pygmies (5 mg b.i.d. for 5 days) failed to augment either glucose or arginine-induced insulin secretion. Glucagon consistently caused normal insulin secretion in HGH-deficient dwarfs and was, likewise, effective in each pygmy studied. In two offspring from different pygmy mothers and Bantu fathers, insulin responses to glucose were initially normal and increased in a normal manner after HGH treatment. In previous studies, HGH failed to reduce serum urea nitrogen concentration in pygmies. Sulfation factor was found to be normal. A consideration of the data in toto is consistent with a hypothesis that the metabolic findings in the pygmy may result from partial nonresponsiveness to either HGH or to a factor generated by HGH. This defect is not transmitted as either an autosomal or sex-linked dominant trait.

Arginine↗

Genetic forms of pituitary dwarfism.

Pituitary dwarfism represents a genetically heterogeneous group of disorders which may be classified on the basis of: associated developmental anomalies or degenerative disease; deficiency of, or peripheral insensitivity to HGH; the number of deficient hormones; the associated metabolic disturbances; and the mode of inheritance. Hereditary forms of pituitary dwarfism include: congenital absence of the pituitary, panhypopituitary dwarfism (autosomal and X-linked recessive forms), isolated HGH deficiency (Types I and II), Laron type of dwarfism, and peripheral unresponsiveness to HGH (the African Pygmies).

Adrenocorticotropic Hormone↗

An oculocerebrofacial syndrome.

A syndrome of mental retardation, microcephaly, a mongoloid slant to the palpebral fissures, microcornea, strabismus, myopia, optic atrophy, high-arched palate, preauricular skin tags and small mandible is described in four (including one set of twins) of seven sibs born to unaffected, nonconsanguineous parents of German ancestry. An autosomal recessive mode of inheritance seems most likely.

Adolescent↗

The Dyggve-Melchior-Clausen syndrome.

An 18-year-old mentally retarded girl with short-trunked dwarfism is described as a case of the Dyggve-Melchior-Clausen syndrome. This disorder is characterized by distinctive skeletal radiographic changes, particularly a lacey appearance of the iliac crest. This syndrome appears to be inherited as an autosomal recessive trait. Reports of several cases with similar radiographic changes but without mental retardation suggest heterogeneity within this syndrome.

Adolescent↗

Mechanisms of gene action in disorders of the endocrine glands.

Hereditary endocrinopathies may result from a wide variety of distinct pathogenetic mechanisms, including: abnormalities in hormonal structure, synthesis or secretion; neurostimulatory defects; biosynthetic enzyme deficiencies; developmental malformations; degenerative disorders; hormonal antagonists; peripheral unresponsiveness to hormonal action; and glandular hyperplasia and neoplasia. The majority of these defects can result in the same phenotype: ie, an endocrine deficiency state. Hormonal deficiency states are usually recessively inherited, whereas those involving glandular hyperplasia or neoplasia are usually dominantly inherited.

Endocrine System Diseases↗