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Biomedical subjects

Erica A Eugster

Publications and source records attributed to Erica A Eugster.

At least 19 recordsLinked to original sources
PubMed2006

Monozygotic twins with Turner syndrome develop slipped capital femoral epiphysis on growth hormone therapy.

Monozygotic twins with Turner syndrome have rarely been reported. An increased incidence of slipped capital femoral epiphysis has been associated with growth hormone therapy, as well as with Turner syndrome, but has never been described in twins with Turner syndrome. We report the first case of monozygotic twins with Turner syndrome with a 46,Xi(Xq) karyotype, both of whom developed slipped capital femoral epiphysis during growth hormone therapy. This report adds to existing reports of monozygotic twins with Turner syndrome and contributes to recognition of the potential clinical course in such patients. In addition, the association between slipped capital femoral epiphysis, growth hormone therapy, and Turner syndrome is emphasized.

Adolescent↗
PubMed2006

Differences in follicle-stimulating hormone secretion between 45,X monosomy Turner syndrome and 45,X/46,XX mosaicism are evident at an early age.

CONTEXT: Little information exists regarding FSH values in very young girls with Turner syndrome (TS). OBJECTIVES: The objective of the study was to evaluate the pattern, natural progression, and karyotype-related differences in FSH secretion in young, prepubertal girls with TS. STUDY DESIGN: FSH was measured at study entry and annually for 2 yr. SETTING: The Toddler Turner study was conducted at 11 U.S. pediatric endocrine centers. STUDY PARTICIPANTS: Eighty-eight girls with karyotype-proven TS aged 9 months to 4 yr participated in the study. MAIN OUTCOME MEASURES: By-karyotype differences in FSH concentration and age-related changes in FSH were measured. RESULTS: Mean (+/- SD) FSH was markedly elevated in the 45,X (n = 56: 68.3 +/- 36.0 IU/liter) and Other groups [n = 15 (excluding three subjects with Y-containing karyotypes): 52.7 +/- 50.8 IU/liter] but was minimally elevated in girls with 45,X/46,XX mosaicism (n = 14: 10.1 +/- 13.5 IU/liter, P < 0.005 both comparisons). Over the 2-yr period, FSH declined in the 45,X group (-13.4 IU/liter.yr, P < 0.0001). Nonetheless, only three of 159 FSH values fell within normal range for age at any time during the 2-yr study. FSH decline was similar in the Other group (-14.3 IU/liter.yr, P = 0.0032). In contrast, no significant decrease in FSH with age was observed in the 45,X/46,XX group. CONCLUSIONS: In contrast to the original report of FSH concentrations in individuals with TS, this study demonstrates distinct differences in patterns of FSH secretion between young girls with monosomy TS, who have persistent elevation of FSH to age 6 yr, and those with 45,X/46,XX mosaicism, whose FSH values suggest retained ovarian function in the majority. These findings have implications for patient management and family counseling.

Aging↗
PubMed2006

Predictors of glycemic control on insulin pump therapy in children and adolescents with type I diabetes.

OBJECTIVE: To determine variables predictive of glycemic control in a large population of pediatric patients with type 1 diabetes on continuous subcutaneous insulin infusion (CSII). METHODS: Charts of patients on CSII for > or =1 year were reviewed. "Good" control was a priori defined as HbA1c < or =9% in patients under 12 years of age, and < or =8% in patients over 12 years. RESULTS: Ninety-three patients were identified (57 girls and 36 boys). Their mean age at pump start was 11.6+/-3.1 years with duration of diabetes of 4.7+/-3.1 years. Average time on pump therapy was 2.4+/-0.8 years. HbA1C decreased from 8.7+/-0.9% prior to pump therapy to 8.3+/-0.6% while on CSII (p < 0.01). Despite analysis of a large number of possible predictors, only number of basal rates (4.4 versus 3.4) and younger age (10.0 years versus 13.1 years) correlated with good control. CONCLUSION: Only younger age and use of more basal rates were predictive of good diabetes control in children using CSII. Decisions regarding which pediatric patients are most appropriate for CSII must continue to be individualized.

Adolescent↗
PubMed2006

Presentation and clinical progression of pseudohypoparathyroidism with multi-hormone resistance and Albright hereditary osteodystrophy: a case series.

Anthropometric and biochemical features were retrospectively evaluated in 12 patients with pseudohypoparathyroidism, Albright hereditary osteodystrophy, and multi-hormone resistance. Hypothyroidism and subcutaneous calcifications were presenting features in younger children. Temporal trends in stimulatory hormone resistance included early thyroid-stimulating hormone elevation and progression from parathyroid hormone elevation to hyperphosphatemia and hypocalcemia.

Child↗
PubMed2006

Urinary tract infections in children with congenital adrenal hyperplasia.

OBJECTIVE: To investigate the incidence of urinary tract infections (UTIs) in children with congenital adrenal hyperplasia (CAH), and to determine whether there was a correlation between UTIs and the timing and type of genital surgery in girls. STUDY DESIGN: Medical records of patients with CAH < or = 15 years were reviewed. A parent questionnaire regarding history of UTIs was completed. RESULTS: Seventy-one patients with classic CAH (41 girls, 30 boys) aged 8.3 +/- 4.2 years were identified. Thirty-five (85%) girls had undergone feminizing genitoplasty at 1.1 +/- 0.8 years, while six (15%) had not. History of UTI was reported in nine (12.6%) patients (one boy, eight girls). In seven of the eight girls, genital surgery had been performed and all UTIs occurred after surgery. One UTI was reported in a girl who had not undergone surgery. No correlation was found between UTIs and the type of genital surgery. CONCLUSION: The incidence of UTIs in children with CAH is similar to that in the general population. Although preliminary, our results do not suggest an increased risk of UTIs if surgery is delayed.

Adolescent↗
PubMed2006

Pubic hair of infancy: endocrinopathy or enigma?

Pubic hair of infancy is a rare condition that has not been well-characterized. A retrospective chart review of infants <12 months of age who presented to our pediatric endocrine clinics with isolated pubic hair over the last 5 years was performed. Eleven patients were identified (6 male and 5 female). The average age at diagnosis was 8.3 +/- 2.0 months. The majority of patients (73%) had pubic hair in an atypical location. Growth pattern, laboratory evaluation, and bone-age radiographs were unremarkable for all the infants. Of the infants that returned for follow-up, pubic hair resolved by the age of 11.0 +/- 1.5 months. From our experience and review of the literature, we suggest that isolated pubic hair of infancy is a benign entity. However, long-term follow-up needs to be done to determine if pubic hair of infancy is an atypical variant of premature adrenarche, which may place these patients at risk for later adult disease.

Diagnosis, Differential↗
PubMed2006

Position statement: Continuous subcutaneous insulin infusion in very young children with type 1 diabetes.

Insulin pump therapy has become increasingly popular for the treatment of type 1 diabetes in pediatric patients. Although significant experience has accrued with the use of this modality in older children and adolescents, much less data are available regarding continuous subcutaneous insulin infusion in the very young. Policies of individual physician practices and insurance companies vary widely, and there is currently no consensus regarding the appropriateness of insulin pump therapy in the under 6 age group. However, we have witnessed in recent years a significant increase in the number of clinical trials investigating the use of continuous subcutaneous insulin infusion in young patients, and reports of > 100 preschool-aged diabetic children treated with insulin pumps are available in the literature. Although these studies have been of relatively short duration (< or = 12 months), the results are remarkably consistent. Although there is no evidence that insulin pump therapy results in a sustained improvement in glycemic control in this age group, risks associated with these devices in the hands of reliable adults who are managing diabetes in very young children are low. Parental satisfaction related to the increased flexibility that continuous subcutaneous insulin infusion affords anecdotally seems to be high, although formal examination of parental stress and health-related quality of life in this setting has been minimal. Important questions remain regarding selection of appropriate candidates for insulin pump therapy, whether benefits of continuous subcutaneous insulin infusion outweigh the costs, and what eventual outcomes will be in children treated with pumps from a very young age. Long-term follow-up of medical, psychological, and neurocognitive parameters in these young patients will be paramount. Our goal with this review is to summarize efficacy and safety of continuous subcutaneous insulin infusion in children < or = 6 years of age, present potential pros and cons of using insulin pumps in this population, and propose clinical management guidelines that could be useful for both practitioners and third-party payers alike.

Age Factors↗
PubMed2005

Hashitoxicosis in children: clinical features and natural history.

OBJECTIVE: To determine the incidence, natural history, and clinical characteristics of Hashitoxicosis (Htx) in pediatric patients with autoimmune thyroiditis. STUDY DESIGN: Medical records of children diagnosed with Hashimoto thyroiditis between 1993 and 2002 were reviewed. The clinical course of patients presenting with hyperthyroidism was determined. Variables including sex, age, family history, thyroid hormone levels, anti-thyroid antibody titers, 123 I thyroid scan results, and presenting features were investigated as possible predisposing factors for the development of Htx. RESULTS: Out of 69 patients with autoimmune thyroiditis, 8 were diagnosed with Htx. The duration of hyperthyroidism ranged from 31 to 168 days. Three patients became hypothyroid after an average of 46.3 +/- 13.2 days, and 5 patients became euthyroid after an average of 112.8 +/- 59.8 days. Additional findings included an elevated thyroid stimulating immunoglobulin (TSI) titer in 3 of the 8 patients with Htx, and increased uptake on 123 I scan in 2 patients. CONCLUSION: Htx is an uncommon yet important cause of hyperthyroidism in children that has a variable clinical course. The diagnosis may be complicated, as presenting features sometimes exhibit significant overlap with Graves' disease. No factors predisposing to the development of Htx were identified.

Adolescent↗
PubMed2005

Hypopituitarism and neurodevelopmental abnormalities in relation to central nervous system structural defects in children with optic nerve hypoplasia.

OBJECTIVE: Optic nerve hypoplasia (ONH) is a heterogeneous disease with variable findings of pituitary insufficiency, CNS and neurodevelopmental abnormalities. We characterized the spectrum of endocrinopathy in a cohort of children with ONH and attempted to correlate the presence of different midline CNS findings with the degree of hypopituitarism. The correlation of variable CNS abnormalities with the presence of a seizure disorder and neurodevelopmental delay was also examined. METHODS: Charts of 56 patients with ONH referred to our endocrine clinics between 1990 and 2000 were reviewed. Neurodevelopmental assessment was based on questionnaires sent to families during the study period. RESULTS: Forty-six patients (82%) had hypopituitarism, with growth hormone deficiency being the most common endocrinopathy. All patients with diabetes insipidus, hypocortisolism, and hypogonadotropin hypogonadism also had combined pituitary hormone deficiency. Evolving pituitary hormone deficiency was observed in two of 37 patients diagnosed with hypopituitarism in the first 3 years of life. No single midline CNS finding correlated with the presence of hypopituitarism or a seizure disorder. However, hydrocephalus or a seizure disorder was more commonly seen in patients with developmental delay. CONCLUSION: ONH is a heterogeneous disorder with possible multifactorial etiologies. All patients with this diagnosis deserve a comprehensive endocrine and neurodevelopmental evaluation.

Adolescent↗
PubMed2005

The use of tamoxifen to improve height potential in short pubertal boys.

A retrospective chart review of 7 pubertal boys who were treated with tamoxifen was conducted to determine the effects of this therapy on skeletal maturation and predicted adult height. Tamoxifen significantly decreased the rate of skeletal maturation and increased the predicted adult height without negative effects on sexual maturation. Additional evaluation of this therapy is now required to determine if the increase in predicted adult height results in a clinically significant increase in final adult height.

Adolescent↗
PubMed2005

Bisphosphonate treatment of pediatric bone disease.

The science of measuring bone mineral density has developed rapidly and, with it, an improved understanding of the efficacy and safety of various therapeutic interventions in adults. In contrast, the meaning and precision of such measurements in children are equivocal, and the concept of treatment for low bone density in the young patient is still largely undecided. In this report we review the present state of knowledge regarding the use of bisphosphonates during childhood to ameliorate the skeletal abnormalities associated with osteogenesis imperfecta, idiopathic juvenile osteoporosis, fibrous dysplasia of bone and cerebral palsy. Because of the paucity of long-term studies among children regarding the safety and efficacy of these drugs, it is difficult to formulate strong evidence-based recommendations for their use, except perhaps in children with osteogenesis imperfecta.

Bone Density↗
PubMed2004

Definitive diagnosis in children with congenital hypothyroidism.

OBJECTIVES: To investigate the definitive diagnosis and underlying causes of congenital hypothyroidism (CH) in eligible children through the use of a standardized protocol. STUDY DESIGN: Children > or =3 years of age with CH without an identified permanent cause underwent a diagnostic algorithm. Eligible subjects had an anatomically normal thyroid or had not undergone imaging studies. After thyroxine was discontinued for 4 weeks, thyroid function tests and a thyroid ultrasound were obtained. An abnormal ultrasound was followed by a (99m)Tc thyroid scan. A perchlorate washout test was performed in subjects with a normal ultrasound but abnormal thyroid function tests. Children with normal results were followed for 1 year. RESULTS: Of 33 children, 17 were boys. Nine (27%) had an absent or ectopic thyroid, 12 (36%) had dyshormonogenesis, and 12 (36%) had transient CH. Average thyroxine dose before medication discontinuation was 2.9 +/- 0.83 microg/kg in permanent cases versus 2.0 +/- 0.53 microg/kg in transient (P <.002). No complications from discontinuation of thyroxine occurred. CONCLUSIONS: A significant percentage of children with CH have a transient requirement for thyroid hormone. A standardized protocol with thyroid ultrasonography is a safe and sensitive approach to a trial off of thyroxine in select patients.

Algorithms↗