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E Grace

Publications and source records attributed to E Grace.

At least 55 records · Page 3Linked to original sources
PubMed1983

Detection of late-onset 21-hydroxylase deficiency congenital adrenal hyperplasia in adolescents.

Because severe hirsutism is difficult to reverse, the evaluation of the adolescent girl with progressive hirsutism should aim at the pathophysiology of androgen excess in order to select appropriate therapies. A prospective study was undertaken to determine the occurrence of late-onset 21-hydroxylase deficiency among adolescents with androgen excess. Twenty-two young women (mean age 17.3 +/- 2.6 years) with androgen excess had serum 17-hydroxyprogesterone measured before and after bolus intravenous infusion of synthetic ACTH (Cortrosyn), 0.25 mg. Two patients, aged 13 and 19 years old, had elevated base line 17-hydroxyprogesterone and 30- and 60-minute responses to Cortrosyn consistent with 21-hydroxylase deficiency. Chromosome 6p haplotypes provided supportive evidence of 21-hydroxylase deficiency. The base line androgen levels, clinical presentation, and a four-day dexamethasone test did not distinguish patients with 21-hydroxylase deficiency from other hirsute adolescents. The Cortrosyn test identifies a population of adolescents who need long-term corticosteroid therapy. The use of major histocompatibility complex haplotypes could be of help in identifying affected siblings prior to the development of significant hirsutism.

Adolescent↗
PubMed1980

Oligomenorrhea in adolescent girls.

Forty-two patients ages 15 to 20 years (average 17.3 years) were evaluated for oligomenorrhea. Group I consisted of 19 patients with evidence of androgen excess (hirsutism, clitoromegaly, acne); and Group II included 23 patients without evidence of androgen excess. Sixteen of the 19 patients in Group I had elevated serum LH and normal FSH values. Serum total testosterone concentration was elevated in 12 patients and free T was elevated in one additional patient. In nine patients urinary 17KS excretion was elevated and dexamethasone suppressible. For the purpose of treatment, patients in Group I were divided into three subgroups: IA, polycystic ovary syndrome--12 patients; IB, adrenal block--two patients; IC, combined adrenal and ovarian hyperandrogenism--five patients. Among the 23 Group II patients, four had persistently elevated serum LH and normal FSH values, suggesting PCO; three had menopausal levels of LA and FSH; one had hyperprolactinemia and a depressed floor of the pituitary sella; and the remaining 15 patients had low to normal serum levels of LH and FSH, consistent with hypothalamic suppression. Guidelines for the diagnosis and treatment of adolescents with oligomenorrhea are discussed on the basis of these findings.

17-Ketosteroids↗
PubMed1979

Asymptomatic bacteriuria in adolescent girls: II. Screening methods.

Of 500 asymptomatic adolescent girls who were screened for bacteriuria by three methods-dipslide (Uricult), dipstrip (Microstix-3 reagent strips), and home nitrite test (Microstix-Nitrite reagent strips)-eight cases (1.6%) were detected: 6/8 by dipslide and dipstrip; 5/8 by nitrite testing. The false-positive-rate (greater than 10(4) colonies/ml) of the dipslide test was 6.4%, and the dipstrip test, 2.8%. A history of vaginal discharge was not associated with "contaminated" specimens. False-positive nitrite tests were reported by 0.6% of the patients who returned the postcards. Overall, 70.4% of the patients returned the postcards for the home nitrite test. The patients were divided by method of payment (Medicaid vs non-Medicaid) in order to provide an approximation of socioeconomic status; non-Medicaid patients were significantly more likely to return postcards than Medicaid patients (75.8% vs 63.7%). Of the group reporting previous urinary tract infection, 79% of both Medicaid and non-Medicaid patients returned postcards, suggesting that a prior experience with the diagnosis increased compliance with a home test.

Adolescent↗
PubMed1979

Asymptomatic bacteriuria in adolescent girls: I. Epidemiology.

Because the incidence of bacteriuria in asymptomatic school girls is low (1% to 2%), we examined possible risk factors in adolescents, such as previous history of urinary tract infection (UTI) and sexual intercourse (previous and recent). Eight (1.6%) of 500 adolescent girls were detected with asymptomatic bacteriuria (ABU). Of 47 patients reporting a previous UTI, four (9%) were bacteriuric. Two other patients detected with bacteriuria had a history of enuresis; thus 6/8 adolescents with ABU had a history that suggests a need to screen for infection. A history of sexual activity was not helpful in case detection. Of the 500 girls, 133 had a routine pelvic examination at the time of the visit. The procedure was not associated with bacteriuria, as measured by a home nitrite test each day for three days following the clinic visit.

Adolescent↗
PubMed1978

The occurrence of a ring 18, an accessory bisatellited fragment, and trisomy 21 within one sibship.

A family is presented in which there were three different chromosome abnormalities in the children although the parents were cytogenetically normal. The proband had the karyotype 46,XX, r(18) (p11q23), a phenotypically normal brother was 47,XY,+mar, and another brother was a typical case of Down's syndrome, karyotype 47,XY,+21. There is nothing in the parents' history that provides grounds for a hypothesis to explain the coincidence of the abnormalities.

Cells, Cultured↗
PubMedDate not supplied

Acute lymphoblastic leukemia and Klinefelter's syndrome.

We report two children with acute lymphoblastic leukemia (ALL) who in initial cytogenetic investigation were coincidently found to have a 47, XXY karyotype. In one patient 100% of peripheral blood lymphocytes showed a 47,XXY complement, but in the other only 30% of cells had such a complement, the remainder having a normal male karyotype (46, XY). In neither case was the diagnosis of Klinefelter's syndrome clinically obvious. Antileukemic therapy may exacerbate both the hypogonadism and the learning difficulties seen in this condition. Routine cytogenetic investigations on peripheral blood and bone marrow should be performed in all new cases of leukemia. Cytogenetic analysis of cultured fibroblasts is essential in all cases in which the abnormal X line did not disappear after initial therapy. Evidence of an increased risk of leukemia in association with Klinefelter's is beginning to accumulate.

Child, Preschool↗