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E A Eugster

Publications and source records attributed to E A Eugster.

6 recordsLinked to original sources
PubMed2001

Height outcome in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency: a meta-analysis.

OBJECTIVE: To investigate adult heights attained by patients with 21-hydroxylase deficiency and to perform a meta-analysis of height outcomes reported in this population. STUDY DESIGN: A retrospective chart review of our patients >5 years of age (n = 65) who were followed up from 1978 to 1998 for 21-hydroxylase deficiency was conducted. Final height (FH) SD scores and target height (TH) SD scores were determined. The impact of sex, time of diagnosis, and compliance was assessed. Meta-analysis of results from 18 studies was performed; TH was available for 204 of 561 patients. RESULTS: Mean FH SD score-TH SD score for our 65 patients was -1.03. For the meta-analysis, mean weighted FH SD score for all 561 patients was -1.37, whereas weighted mean FH SD score-TH SD score for the 204 patients for whom TH was available was -1.21. No difference in outcome was seen for males compared with females, although a statistically significant difference was seen for patients identified early versus late. CONCLUSIONS: Adult height in patients with 21-hydroxylase deficiency is often within 1 SD of TH. Early diagnosis and good compliance appear to improve the outcome. Rather than pursuing alternate therapies for congenital adrenal hyperplasia, efforts may instead be focused on early detection and improved compliance with traditional medical therapy.

Adrenal Hyperplasia, Congenital↗
PubMed1999

Gigantism.

Explore the source record for details and available documents.

Chromosomes, Human, Pair 11↗
PubMed1997

Mosaicism for deletion 1p36.33 in a patient with obesity and hyperphagia.

We report on a 4-year-old girl with obesity and hyperphagia whose peripheral blood cytogenetic analysis showed mosaicism for a deletion of band 1p36.33. Terminal 1p deletions are rarely reported and this patient represents the first identified case of mosaicism. Given the subtlety of the cytogenetic abnormality and the possibility of mosaicism, the incidence of such deletions has probably been underestimated. While a characteristic phenotype associated with this karyotypic abnormality was described recently, the present report highlights the additional clinical findings of obesity and hyperphagia and the overlap of manifestations with Prader-Willi syndrome.

Child, Preschool↗
PubMed1996

Minnesota rickets. Need for a policy change to support vitamin D supplementation.

Vitamin D deficiency rickets, once considered the most common disease of early childhood, was reported to have disappeared by the 1960s. However, during a recent 18-month period, seven cases of nutritional rickets were diagnosed in the Twin Cities metropolitan area. All of the patients were born at term and were breastfed without supplementation vitamins. Three of the patients were Caucasian, three were African American, and one was biracial. This case series demonstrates the risk of nutritional rickets in breastfed infants in our northern climate, regardless of race. In hopes of eradicating this completely preventable disease, we advocate a uniform policy of vitamin D supplementation to breastfed infants.

Breast Feeding↗
PubMedDate not supplied

Tamoxifen treatment of progressive precocious puberty in a patient with McCune-Albright syndrome.

Treatment of progressive precocious puberty in patients with McCune-Albright syndrome (MAS) has traditionally been with aromatase inhibitors, such as testolactone. However, the use of these agents has been characterized by problems with both efficacy and compliance. We report a case of MAS in which tamoxifen proved to be a successful alternative in the treatment of progressive precocious puberty. An African-American female presented with MAS at 2-5/12 years. Frequent menses, skeletal maturation and growth acceleration prompted initiation of therapy with testolactone at 22 mg/kg/d. Over the next 13 months, the patient's puberty advanced unchecked, despite progressive increases in the dose of testolactone. At age 4 years, medication was discontinued due to treatment failure. At 4-6/12 years, bone age was 10 years, predicted adult height was 137 cm, and monthly bleeding continued. Tamoxifen was then begun on an experimental basis. In response, the patient experienced immediate cessation of menses, and had an abrupt decrease in the rates of pubertal progression and linear growth. This patient has now been maintained on tamoxifen for over three years with no apparent adverse effects. GnRH analogue therapy was begun when the onset of central precocious puberty was noted. Predicted adult height has improved to 154 cm and growth velocity and skeletal maturation remain stable. Our results suggest that tamoxifen may have a valuable role in the treatment of precocious puberty in patients with MAS and may lead to superior results compared with those achieved with aromatase inhibitors.

Body Height↗