Gerald J. Bargman

Bone mineral status in growth hormone deficiency

Bone mineral status was monitored by photon absorptiometry in 18 children with growth hormone deficiency. Before exogenous growth hormone therapy, bone mineral content, bone width, and BMC/BW were below predicted values. Delayed maturation, as assessed by skeletal age, accounted for approximately 35% of the deficit for these values. Height velocity doubled during therapy, and BMC, BW, and BMC/BW increased commensurate with height and weight increases so that the relative deficit was unchanged. The pathogenesis of relative osteopenia in growth hormone deficiency was not determined.

Osteopenia in juvenile diabetes.

SummaryThe bone mineral status of fifty-one children with diabetes mellitus was studied by single photon absorptiometry. The mean bone mineral content was 13% below values predicted by age, sex, height, and weight. Those children whose diabetes was one year or less in duration were as osteopenic as those whose diabetes was of longer duration. The demineralized children received a higher daily insulin dose than the others. No association was noted between the degree of skeletal demineralization and sex, statural growth, renal function, and serum calcium and phosphorus. No significant changes in bone mineral content were noted longitudinally.

Skeletal demineralization in Turner's syndrome.

SummaryThe bone mineral status of 17 girls with Turners syndrome was evaluated by single photon absorptiometry. Bone mineral content (BMC) was 25.4% below that predicted by normalization for age, sex, height, weight, and bone width. Only 25% of this demineralization could be attributed to delayed skeletal maturation. Bones of girls who received estrogen replacement therapy were less demineralized than those of the others. The bone mineral deficit became less pronounced with advancing age. It could not be determined if the apparent effect of estrogens was related to age or if the apparent improvement with age was really due to an effect of estrogen treatment. For 8 subjects followed longitudinally there was no significant change in the BMC deficit.

Studies of malformation syndromes of man XL VII: Disappearance of spermatogonia in the fanconi anemia syndrome

A 15 year old boy with the Fanconi malformation-aplastic anemia syndrome developed erythroleukemia and died of multiple arterial thromboses and hemorrhage. He was one of 10 siblings including 3 affected sisters. He was short of stature and had hypoplastic thumbs; his testes were small and secondary sexual characteristics were inadequately developed. At autopsy he was found to have very few spermatogonia, i.e., a histological picture compatible with the “Sertoli-cell-only” defect. Male hypogonadism in other chromosome breakage syndromes (the Bloom syndrome and ataxia telangiectasia) may have a similar pathogenesis.

Lack of inhibition of vasopressin release in midfacial hypoplasia

asymptomatic carrier among household contacts. However, this number may be an underestimate, because bacteriologic monitoring of asymptomatic contacts was not continued if initial stool cultures were negative. In vitro antibiotic susceptibilities of Campylobacter have been described by ,Butzler et al. 1 Erythromycin or aminoglycosides are uniformly active and could be prescribed for oral or parenteral therapy in children. There is no evidence, however, that these drugs improve the clinical or bacteriologic course of illness; the indications for antibacterial treatment are undefined. Because of its slow growth and special gaseous requirement, Campylobacter will not be recognized by routine diagnostic procedures for enteric pathogens. Clinical laboratories, particularly in pediatric hospitals, should be aware of this seemingly important enteric pathogen, and include special isolation techniques for Campylobacter in their routine diagnostic procedures.

Urethral encirclement by sacrococcygeal teratoma.

Obstruction and neurogenic bladder involvement are common with sacroccygeal teratomas but external genital involvement is rare. A genetic (46XY) male infant required cystotomy, colostomy and sex-of-rearing change to enable surgical removal of a sacrococcygeal teratoma that surrounded the hypospadiac urethra and deviated the penis. An associated ventral congenital transposition of the scrotum allowed partial coverage of the defect. Renal and bladder manifestations secondary to sacrococcygeal teratomas commonly require urologic management.

Adrenal scan in 17-alpha-hydroxylase deficiency: false indication of adrenal adenoma.

A patient who was thought to have testicular feminization syndrome and primary aldosteronism had an adrenal scan that suggested an adrenal adenoma. After later diagnosis of 17-alpha-hydroxylase deficiency, she was treated with glucocorticoids rather than surgery. Her clinical course and a repeat adrenal scan confirmed she did not have a tumor.