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1.
Int J Neonatal Screen ; 10(2)2024 Mar 25.
Artigo em Inglês | MEDLINE | ID: mdl-38651392

RESUMO

The Connecticut Newborn Screening (NBS) Network, in partnership with the Connecticut Department of Public Health, strategically utilized the Epic electronic health record (EHR) system to establish registries for tracking long-term follow-up (LTFU) of NBS patients. After launching the LTFU registry in 2019, the Network obtained funding from the Health Resources and Services Administration to address the slow adoption by specialty care teams. An LTFU model was implemented in the three highest-volume specialty care teams at Connecticut Children's, involving an early childhood cohort diagnosed with an NBS-identified disorder since the formation of the Network in March 2019. This cohort grew from 87 to 115 over the two-year project. Methods included optimizing registries, capturing external data from Health Information Exchanges, incorporating evidence-based guidelines, and conducting qualitative and quantitative evaluations. The early childhood cohort demonstrated significant and sustainable improvements in the percentage of visits up-to-date (%UTD) compared to the non-intervention legacy cohort of patients diagnosed with an NBS disorder before the formation of the Network. Positive trends in the early childhood cohort, including %UTD for visits and condition-specific performance metrics, were observed. The qualitative evaluation highlighted the achievability of practice behavior changes for specialty care teams through responsive support from the nurse analyst. The Network's model serves as a use case for applying and achieving the adoption of population health tools within an EHR system to track care delivery and quickly fill identified care gaps, with the aim of improving long-term health for NBS patients.

2.
Horm Res Paediatr ; 94(1-2): 18-35, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34111870

RESUMO

INTRODUCTION: In the randomized "Toddler Turner" study, girls who received growth hormone (GH) starting at ages 9 months to 4 years (early-treated [ET] group) had marked catch-up growth and were 1.6 ± 0.6 SD taller than untreated (early-untreated [EUT]) control girls after 2 years. However, whether the early catch-up growth would result in greater near-adult height (NAH) was unknown. Therefore, this extension study examined the long-term effects of toddler-age GH treatment on height, pubertal development, and safety parameters. METHODS: Toddler Turner study participants were invited to enroll in a 10-year observational extension study for annual assessments of growth, pubertal status, and safety during long-term GH treatment to NAH for both ET and EUT groups. RESULTS: The ET group was taller than the EUT group at all time points from preschool to maturity and was significantly taller at the onset of puberty (p = 0.016), however, the difference was not significant at NAH. For the full cohort (ET + EUT combined, n = 50) mean (± SD) NAH was 151.2 ± 7.1 cm at age 15.0 ± 1.3 years. NAH standard deviation score (SDS) was within the normal range (>-2.0) for 76% of ET and 60% of EUT subjects (68% overall) and correlated strongly with height SDS at GH start (r = 0.78; p < 0.01), which in turn had a modest inverse correlation with age at GH start (i.e., height SDS declined with increasing age in untreated girls [r = -0.30; p = 0.016]). No new safety concerns arose. CONCLUSION: Although the ET group was taller throughout, height SDS at NAH was not significantly different between groups due to catch-down growth of ET girls during lapses in GH treatment after the Toddler study and similar long-term GH exposure overall. Early initiation of GH by age 6 years, followed by uninterrupted treatment during childhood, can prevent ongoing growth failure and enable attainment of height within the normal range during childhood, adolescence, and adulthood.


Assuntos
Estatura/efeitos dos fármacos , Transtornos do Crescimento/prevenção & controle , Hormônio do Crescimento Humano/uso terapêutico , Puberdade/efeitos dos fármacos , Síndrome de Turner/complicações , Adolescente , Pré-Escolar , Feminino , Transtornos do Crescimento/etiologia , Hormônio do Crescimento Humano/administração & dosagem , Humanos , Lactente
3.
Telemed J E Health ; 27(12): 1379-1384, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-33719584

RESUMO

Background: Access to pediatric specialty care is a challenge, particularly for medically underserved populations. Introduction: One evolving method that has shown promise in helping ameliorate this disparity is electronic consultations (e-consults). Materials and Methods: This retrospective cohort study compared two groups: patients referred to pediatric cardiology, endocrinology, or pulmonology from a Federally-Qualified Health Center 10 months before the implementation of an evidence-based care pathway and those referred in the 10 months after implementation. The care pathway included evidence-based referral guidelines for common pediatric diagnoses and an e-consult process. Data included patient demographics, dates of referral requests, appointment dates, e-consult response dates and times, diagnosis codes, and consultants' recommendations. Results: Twenty-three percent of all referrals made postimplementation were submitted for an e-consult, with 53% preventing an unnecessary face-to-face visit. The most common reason for an e-consult was heart murmur/chest pain for cardiology, short stature for endocrinology, and asthma for pulmonology. Discussion: Providers used e-consults for nearly one-quarter of all consultations postimplementation, resulting in 17% of consultations not needing a face-to-face visit. The use of e-consults combined with evidence-based referral guidelines provided a useful tool to help front line pediatric primary care providers manage complex problems and identify those not needing to see a specialist in person. Conclusions: Evidence-based care pathways combined with e-consults can help improve access to pediatric specialty care by reducing demand for in-person visits and allowing more care to be delivered in primary care.


Assuntos
Consulta Remota , Criança , Humanos , Estudos Retrospectivos
4.
Am J Med Genet C Semin Med Genet ; 181(1): 135-140, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30758128

RESUMO

To address knowledge gaps about Turner syndrome (TS) associated disease mechanisms, the Turner Syndrome Society of the United States created the Turner Syndrome Research Registry (TSRR), a patient-powered registry for girls and women with TS. More than 600 participants, parents or guardians completed a 33-item foundational survey that included questions about demographics, medical conditions, psychological conditions, sexuality, hormonal therapy, patient and provider knowledge about TS, and patient satisfaction. The TSRR platform is engineered to allow individuals living with rare conditions and investigators to work side-by-side. The purpose of this article is to introduce the concept, architecture, and currently available content of the TSRR, in anticipation of inviting proposals to utilize registry resources.


Assuntos
Sistema de Registros , Pesquisa/organização & administração , Síndrome de Turner , Feminino , Humanos , Masculino , Pais , Participação do Paciente , Inquéritos e Questionários
5.
Diabetes Care ; 40(12): 1622-1630, 2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-29162582

RESUMO

OBJECTIVE: To identify and define clinically meaningful type 1 diabetes outcomes beyond hemoglobin A1c (HbA1c) based upon a review of the evidence, consensus from clinical experts, and input from researchers, people with type 1 diabetes, and industry. Priority outcomes include hypoglycemia, hyperglycemia, time in range, diabetic ketoacidosis (DKA), and patient-reported outcomes (PROs). While priority outcomes for type 1 and type 2 diabetes may overlap, type 1 diabetes was the focus of this work. RESEARCH AND METHODS: A Steering Committee-comprising representatives from the American Association of Clinical Endocrinologists, the American Association of Diabetes Educators, the American Diabetes Association, the Endocrine Society, JDRF International, The Leona M. and Harry B. Helmsley Charitable Trust, the Pediatric Endocrine Society, and the T1D Exchange-was the decision-making body for the Type 1 Diabetes Outcomes Program. Their work was informed by input from researchers, industry, and people with diabetes through Advisory Committees representing each stakeholder group. Stakeholder surveys were used to identify priority outcomes. The outcomes prioritized in the surveys were hypoglycemia, hyperglycemia, time in range, DKA, and PROs. To develop consensus on the definitions of these outcomes, the Steering Committee relied on published evidence, their clinical expertise, and feedback from the Advisory Committees. RESULTS: The Steering Committee developed definitions for hypoglycemia, hyperglycemia, time in range, and DKA in type 1 diabetes. The definitions reflect their assessment of the outcome's short- and long-term clinical impact on people with type 1 diabetes. Knowledge gaps to be addressed by future research were identified. The Steering Committee discussed PROs and concluded that further type 1 diabetes-specific development is needed. CONCLUSIONS: The Steering Committee recommends use of the defined clinically meaningful outcomes beyond HbA1c in the research, development, and evaluation of type 1 diabetes therapies.


Assuntos
Diabetes Mellitus Tipo 1/sangue , Endocrinologistas/normas , Endocrinologia/normas , Hemoglobinas Glicadas/normas , Avaliação de Resultados em Cuidados de Saúde/normas , Diabetes Mellitus Tipo 1/diagnóstico , Diabetes Mellitus Tipo 2/sangue , Diabetes Mellitus Tipo 2/diagnóstico , Cetoacidose Diabética/sangue , Cetoacidose Diabética/diagnóstico , Endocrinologistas/educação , Endocrinologia/educação , Humanos , Hiperglicemia/sangue , Hiperglicemia/diagnóstico , Hipoglicemia/sangue , Hipoglicemia/diagnóstico , Sociedades Médicas , Estados Unidos
6.
Eur J Endocrinol ; 177(3): G1-G70, 2017 09.
Artigo em Inglês | MEDLINE | ID: mdl-28705803

RESUMO

Turner syndrome affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted recently. These advances cover all specialty fields involved in the care of girls and women with TS. This paper is based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016. Prior to this meeting, five groups each addressed important areas in TS care: 1) diagnostic and genetic issues, 2) growth and development during childhood and adolescence, 3) congenital and acquired cardiovascular disease, 4) transition and adult care, and 5) other comorbidities and neurocognitive issues. These groups produced proposals for the present guidelines. Additionally, four pertinent questions were submitted for formal GRADE (Grading of Recommendations, Assessment, Development and Evaluation) evaluation with a separate systematic review of the literature. These four questions related to the efficacy and most optimal treatment of short stature, infertility, hypertension, and hormonal replacement therapy. The guidelines project was initiated by the European Society for Endocrinology and the Pediatric Endocrine Society, in collaboration with The European Society for Pediatric Endocrinology, The Endocrine Society, European Society of Human Reproduction and Embryology, The American Heart Association, The Society for Endocrinology, and the European Society of Cardiology. The guideline has been formally endorsed by the European Society for Endocrinology, the Pediatric Endocrine Society, the European Society for Pediatric Endocrinology, the European Society of Human Reproduction and Embryology and the Endocrine Society. Advocacy groups appointed representatives who participated in pre-meeting discussions and in the consensus meeting.


Assuntos
Congressos como Assunto/normas , Assistência ao Paciente/normas , Guias de Prática Clínica como Assunto/normas , Síndrome de Turner/diagnóstico , Síndrome de Turner/terapia , Europa (Continente)/epidemiologia , Feminino , Humanos , Ohio , Assistência ao Paciente/métodos , Síndrome de Turner/metabolismo , Estados Unidos/epidemiologia , Mulheres
7.
J Pediatr Adolesc Gynecol ; 29(5): 409-416, 2016 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26485320

RESUMO

In this article we review the existing fertility preservation options for women diagnosed with Turner syndrome and provide practical guidelines for the practitioner. Turner syndrome is the most common sex chromosome abnormality in women, occurring in approximately 1 in 2500 live births. Women with Turner syndrome are at extremely high risk for primary ovarian insufficiency and infertility. Although approximately 70%-80% have no spontaneous pubertal development and 90% experience primary amenorrhea, the remainder might possess a small residual of ovarian follicles at birth or early childhood. The present challenge is to identify these women as early in life as is possible, to allow them to benefit from a variety of existing fertility preservation options. To maximize the benefits of fertility preservation, all women with Turner syndrome should be evaluated by an expert as soon as possible in childhood because the vast majority will have their ovarian reserve depleted before adulthood. Cryopreservation of mature oocytes and embryos is a proven fertility preservation approach, and cryopreservation of ovarian tissue is a promising technique with a growing number of live births, but remains investigational. Oocyte cryopreservation has been performed in children with Turner syndrome as young as 13 years of age and ovarian tissue cryopreservation in affected prepubertal children. However, current efficacy of these approaches is unknown in this cohort. For those who have already lost their ovarian reserve, oocyte or embryo donation and adoption are strategies that allow fulfillment of the desire for parenting. For those with Turner syndrome-related cardiac contraindications to pregnancy, use of gestational surrogacy allows the possibility of biological parenting using their own oocytes. Alternatively, gestational surrogacy can serve to carry pregnancy resulting from the use of donor oocytes or embryos, if needed.


Assuntos
Preservação da Fertilidade/normas , Guias de Prática Clínica como Assunto , Síndrome de Turner/complicações , Adolescente , Criopreservação , Destinação do Embrião , Feminino , Preservação da Fertilidade/métodos , Humanos , Infertilidade/etiologia , Gravidez , Insuficiência Ovariana Primária/etiologia
8.
Healthc (Amst) ; 3(2): 74-9, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26179727

RESUMO

BACKGROUND: In pediatric medicine, inadequate access to subspecialty care is widespread. Referral Guidelines are structured tools that describe criteria for subspecialty referral and may decrease medically unnecessary referrals and thereby improve access. PROBLEM: Variation in referral rates and suboptimal communication around pediatric subspecialty referrals leads to inappropriate and ineffective use of scarce clinical resources. GOALS: Connecticut Children׳s Medical Center prioritized the development of collaborative care tools at the interface between primary and subspecialty care, including Referral Guidelines. STRATEGY: A comprehensive set of Referral Guidelines was developed and consisted of background information on a given condition, strategies for initial evaluation and management, instructions for how and when to refer, and what the patient and family could expect at the visit with the subspecialist. A key component of the initiative was the integral role of the PCP during development. RESULTS: Twenty-eight Referral Guidelines have been developed among 15 subspecialty areas. A novel process for active dissemination of Referral Guidelines was piloted in one medical subspecialty area and led to a reduction in overall referrals and an increase in the proportion of referrals meeting the necessary criteria.


Assuntos
Pediatria , Atenção Primária à Saúde , Encaminhamento e Consulta , Criança , Connecticut , Humanos , Especialização
9.
J Clin Endocrinol Metab ; 100(4): 1234-6, 2015 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25844763

RESUMO

BACKGROUND: Traditional, hypothesis-oriented research approaches have thus far failed to generate sufficient evidence to achieve consensus about the management of children with many endocrine disorders, partly because of the rarity of these disorders and because of regulatory burdens unique to research in children. OBJECTIVE: The Pediatric Endocrine Society is launching a quality improvement network in spring 2015 for the management of pediatric endocrine disorders that are relatively uncommon in any single practice and/or for which there is no consensus on management. DESIGN: The first of the quality improvement programs to be implemented seeks to improve the care of 11- to 17-year-old girls with Turner syndrome who require initiation of estrogen replacement therapy by providing a standardized clinical assessment and management plan (SCAMP) for transdermal estradiol treatment to induce pubertal development. The SCAMP algorithm represents a starting point within current best practice that is meant to undergo refinement through an iterative process of analysis of deidentified data collected in the course of clinical care by a network of pediatric endocrinologists. CONCLUSION: It is anticipated that this program will not only improve care, but will also result in actionable data that will generate new research hypotheses and changes in management of pediatric endocrine disorders.


Assuntos
Redes Comunitárias , Doenças do Sistema Endócrino/terapia , Prática Clínica Baseada em Evidências , Melhoria de Qualidade , Síndrome de Turner/terapia , Adolescente , Algoritmos , Criança , Redes Comunitárias/organização & administração , Redes Comunitárias/normas , Terapia de Reposição de Estrogênios/estatística & dados numéricos , Prática Clínica Baseada em Evidências/organização & administração , Prática Clínica Baseada em Evidências/normas , Feminino , Humanos , Melhoria de Qualidade/organização & administração , Doenças Raras/terapia , Projetos de Pesquisa
10.
Clin Pediatr (Phila) ; 54(10): 969-75, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25573946

RESUMO

BACKGROUND: Co-management is a collaborative care model that consists of structured tools to define and document care delivered by 2 or more providers. We evaluated the impact of implementing co-management at the interface between pediatric primary care providers (PCPs) and subspecialists. METHODS: Participating PCPs (n = 9) were trained on management of concussion using the co-management tools. Co-managed patients with concussion were prospectively enrolled (n = 148) and compared to a retrospective audit of non-co-managed patients (n = 50). RESULTS: PCPs using co-management demonstrated adherence to the tools. PCPs were significantly more likely to provide follow-up care to patients when using the co-management tools. All participating PCPs reported that co-management enhanced their expertise in caring for patients with concussion. CONCLUSIONS: Co-management can enhance PCPs' capacity to independently manage the care of patients with concussion. Co-management led to an observed change in practice that merits further exploration in terms of cost, quality, and clinical outcomes.


Assuntos
Concussão Encefálica/terapia , Equipe de Assistência ao Paciente , Pediatria , Médicos de Atenção Primária , Adolescente , Criança , Comportamento Cooperativo , Feminino , Seguimentos , Humanos , Masculino , Modelos Teóricos , Estudos Prospectivos , Qualidade da Assistência à Saúde
11.
Cardiooncology ; 1(1): 1, 2015 Nov 26.
Artigo em Inglês | MEDLINE | ID: mdl-33530141

RESUMO

BACKGROUND: Subacute cardiotoxicity, consisting of acute myocyte damage and associated left ventricular dysfunction, occurs early during anthracycline therapy. We investigated the impact of myocardial dysfunction, defined herein by a shortening fraction (SF) < 29 % at any time during or after anthracycline therapy, on late onset cardiomyopathy and all-cause mortality, among childhood cancer survivors exposed to anthracyclines. In addition, we sought to identify subpopulations of subjects at highest risk for cardiomyopathy and death from all causes. METHODS: Five hundred thirty-one childhood cancer survivors exposed to anthracyclines were enrolled and studied on average 10 (1.4-27.3) years following their initial exposure. The medical records were reviewed to identify known risk factors associated with cardiotoxicity, including cumulative anthracycline dose, length of post-therapy interval, administration of other cardiotoxic medications (vinca alkaloids), previous heart disease, radiation dose to the heart, history of bone marrow transplantation, age at treatment, gender, systolic dysfunction, and history of congestive heart failure during anthracycline therapy. RESULTS: Ninety subjects (16.9 %) developed SF < 29 % and 71 patients (13.4 %) died on average 10 years after initial exposure (range 1.4-27.3 years). Total cumulative dose (OR 3.27, 95 % CI 1.94, 5.49, p < 0.001) and bone marrow transplantation (OR 2.57, 95 % CI 1.24, 5.30, p = 0.01) were found to be statistically significant risk factors for development of myocardial dysfunction. There was a 3-fold increase in the odds of having a SF < 29 % at any point during or following cancer therapy if a subject underwent bone marrow transplantation or had a total cumulative dose anthracycline therapy ≥ 240 mg/m2. The all-cause mortality ratio was almost seven-fold higher (95 % CI, 2.40-fold to 17.81-fold higher) if a subject developed systolic dysfunction, defined by a previous SF < 29 % anytime during or after anthracycline therapy. Nine deaths (12.7 %) were attributed to cardiovascular disease. The risk of dying as a result of cardiac disease also was significantly higher in individuals who had a SF < 29 % at any time during or after therapy. CONCLUSIONS: This study demonstrates an almost seven-fold increase in all cause mortality in pediatric cancer survivors with a history of anthracycline induced myocardial dysfunction defined as SF < 29 %.

12.
Endocr Pract ; 14(6): 775-81, 2008 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-18996801

RESUMO

OBJECTIVE: To highlight the importance of an improved, seamless, and effective transition from pediatric to adult care, especially for medically complex conditions such as Turner syndrome (TS). METHODS: The morbidities in adult patients with TS are reviewed, including features of the metabolic syndrome, congenital and acquired cardiovascular conditions, osteopenia and osteoporosis, autoimmune thyroid disease, and obesity, and psychobehavioral issues are addressed, in terms of promoting the development of independent self-care and autonomy in adolescent patients. RESULTS: An essential component of high-quality health care, transition for adolescents with TS needs to be reengineered as a staged process initiated during early-stage adolescence (about age 12 years), when exogenous estrogen therapy is begun in coordination with the final phase of growth hormone therapy. At this time, the focus of care shifts from the parent to the adolescent and from maximizing final adult height to inducing puberty with gradually increasing doses of estrogen. During this transition, the development of healthful and independent healthcare behaviors should be promoted to prepare patients with TS for the adult responsibility of self-care. During the final phase of transition, an adult care plan should be formulated in collaboration with the adolescent with TS and her providers of adult care to improve the likelihood that she will continue to be carefully monitored in a way that optimizes her adult health and longevity. CONCLUSION: The transitional period from pediatrics to adulthood is the ideal time for patients with TS to be made aware of their health history and health needs and of the evolving impact of TS into adulthood.


Assuntos
Síndrome de Turner/tratamento farmacológico , Síndrome de Turner/patologia , Adolescente , Fatores Etários , Criança , Vias de Administração de Medicamentos , Terapia de Reposição de Estrogênios , Hormônio do Crescimento/uso terapêutico , Humanos , Síndrome Metabólica/metabolismo , Síndrome Metabólica/patologia , Síndrome de Turner/metabolismo
13.
J Clin Endocrinol Metab ; 92(9): 3406-16, 2007 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-17595258

RESUMO

CONTEXT: Typically, growth failure in Turner syndrome (TS) begins prenatally, and height sd score (SDS) declines progressively from birth. OBJECTIVE: This study aimed to determine whether GH treatment initiated before 4 yr of age in girls with TS could prevent subsequent growth failure. Secondary objectives were to identify factors associated with treatment response, to determine whether outcome could be predicted by a regression model using these factors, and to assess the safety of GH treatment in this young cohort. DESIGN: This study was a prospective, randomized, controlled, open-label, multicenter clinical trial (Toddler Turner Study, August 1999 to August 2003). SETTING: The study was conducted at 11 U.S. pediatric endocrine centers. SUBJECTS: Eighty-eight girls with TS, aged 9 months to 4 yr, were enrolled. INTERVENTIONS: Interventions comprised recombinant GH (50 mug/kg.d; n = 45) or no treatment (n = 43) for 2 yr. MAIN OUTCOME MEASURE: The main outcome measure was baseline-to-2-yr change in height SDS. RESULTS: Short stature was evident at baseline (mean length/height SDS = -1.6 +/- 1.0 at mean age 24.0 +/- 12.1 months). Mean height SDS increased in the GH group from -1.4 +/- 1.0 to -0.3 +/- 1.1 (1.1 SDS gain), whereas it decreased in the control group from -1.8 +/- 1.1 to -2.2 +/- 1.2 (0.5 SDS decline), resulting in a 2-yr between-group difference of 1.6 +/- 0.6 SDS (P < 0.0001). The baseline variable that correlated most strongly with 2-yr height gain was the difference between mid-parental height SDS and subjects' height SDS (r = 0.32; P = 0.04). Although attained height SDS at 2 yr could be predicted with good accuracy using baseline variables alone (R(2) = 0.81; P < 0.0001), prediction of 2-yr change in height SDS required inclusion of initial treatment response data (4-month or 1-yr height velocity) in the model (R(2) = 0.54; P < 0.0001). No new or unexpected safety signals associated with GH treatment were detected. CONCLUSION: Early GH treatment can correct growth failure and normalize height in infants and toddlers with TS.


Assuntos
Transtornos do Crescimento/complicações , Transtornos do Crescimento/tratamento farmacológico , Hormônio do Crescimento Humano/uso terapêutico , Síndrome de Turner/tratamento farmacológico , Determinação da Idade pelo Esqueleto , Desenvolvimento Ósseo/efeitos dos fármacos , Pré-Escolar , Feminino , Transtornos do Crescimento/sangue , Hormônio do Crescimento Humano/efeitos adversos , Humanos , Lactente , Proteína 3 de Ligação a Fator de Crescimento Semelhante à Insulina , Proteínas de Ligação a Fator de Crescimento Semelhante a Insulina/sangue , Fator de Crescimento Insulin-Like I/análise , Síndrome de Turner/sangue
14.
J Pediatr Endocrinol Metab ; 19(1): 55-64, 2006 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-16509529

RESUMO

BACKGROUND: The optimal pubertal hormone replacement therapy in females and males is unclear. OBJECTIVE: To review hormone replacement options for hypogonadal teenagers and to determine the relevant attitudes and practices of pediatric endocrinologists in the United States. DESIGN/METHODS: A workshop on pubertal hormone replacement options was held during the Lawson Wilkins Pediatric Endocrine Society meeting in 2004. A questionnaire was distributed to investigate the audience's attitudes and practices in inducing puberty. RESULTS: The majority of respondents used conjugated estrogens to treat hypogonadal girls with the primary aim of treatment being attainment of maximal adult height. The majority of respondents used depot testosterone to treat hypogonadal boys with the primary aim of treatment being pubertal development and virilization. CONCLUSIONS: The use of physiological sex hormone replacement to optimize the induction of puberty in hypogonadal adolescents was recommended. The workshop revealed striking differences between US and European pediatric endocrinologists regarding their practices and attitudes regarding the induction of puberty in hypogonadal females. Detailed studies are necessary to develop more uniform guidelines.


Assuntos
Estatura/efeitos dos fármacos , Terapia de Reposição Hormonal/métodos , Hipogonadismo/tratamento farmacológico , Puberdade Tardia/tratamento farmacológico , Adolescente , Adulto , Criança , Educação , Endocrinologia/métodos , Endocrinologia/estatística & dados numéricos , Estrogênios/uso terapêutico , Europa (Continente) , Feminino , Terapia de Reposição Hormonal/estatística & dados numéricos , Humanos , Masculino , Pediatria/métodos , Pediatria/estatística & dados numéricos , Puberdade/efeitos dos fármacos , Inquéritos e Questionários , Testosterona/uso terapêutico , Estados Unidos
15.
Pediatr Endocrinol Rev ; 2(4): 645-52, 2005 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-16208277

RESUMO

Puberty in girls begins with nocturnal pulsatile gonadotropin releasing hormone (GnRH) secretion which increases gradually over a 4 year period and occurs throughout the day. Pulsatile GnRH secretion stimulates pituitary luteinizing hormone (LH) and follicle stimulating hormone (FSH) which induces gonadal steroid secretion, ovulation and oogenesis. Over the past decade, naturally occurring genetic mutations have been identified in a number of genes that impact the onset and progression of puberty and continued progress in this area will lead to earlier diagnosis of hypogonadotropic hypogonadism (HypoH) and potentially improved therapeutic options. Data are accumulating to support the use of more physiological hormone regimens to induce puberty. In addition, our better understanding of how estrogen interacts with the growth hormone - insulin-like growth factor-1 (GH-IGF-1) axis and of differential effects of oral versus non-oral estrogen on various biological parameters have important therapeutic implications for the management of hypogonadal adolescent girls. These implications will be addressed.


Assuntos
Endocrinologia , Hipogonadismo/fisiopatologia , Hipogonadismo/terapia , Puberdade , Adolescente , Feminino , Humanos
16.
J Pediatr Endocrinol Metab ; 16 Suppl 3: 651-9, 2003 May.
Artigo em Inglês | MEDLINE | ID: mdl-12795368

RESUMO

The level of medical and neuropsychological complexity throughout the life span of a patient with Turner's syndrome (TS) provides the rationale for a more structured transition from pediatric to adult health care. During late adolescence, the focus of care shifts from maximizing final adult height to completing feminization with estrogen therapy, detecting early antecedents of associated adult conditions, implementing needed therapeutic lifestyle changes, and assessing psychobehavioral risk. An increased prevalence of the dysmetabolic syndrome and osteoporosis is observed in TS. The prevention of obesity and assurance of adequate calcium intake and weight-bearing activities combined with early detection and treatment of specific abnormalities can ameliorate these associated adult morbidities. During the final phase of transition, the pediatric endocrinologist should engage the patient with TS in developing a comprehensive adult care roadmap or 'transition passport', which serves as a powerful educational tool. The aim of refining the transition process is to improve adult outcomes and quality of life for patients with TS.


Assuntos
Serviços de Saúde do Adolescente , Continuidade da Assistência ao Paciente , Síndrome de Turner/diagnóstico , Adolescente , Adulto , Fatores Etários , Doenças Autoimunes/complicações , Doenças Autoimunes/diagnóstico , Comportamento , Cuidadores , Estrogênios/uso terapêutico , Perda Auditiva Neurossensorial/complicações , Perda Auditiva Neurossensorial/diagnóstico , Humanos , Nefropatias/complicações , Nefropatias/diagnóstico , Hepatopatias/complicações , Hepatopatias/diagnóstico , Síndrome Metabólica/complicações , Síndrome Metabólica/diagnóstico , Morbidade , Obesidade/prevenção & controle , Educação de Pacientes como Assunto , Síndrome de Turner/complicações , Síndrome de Turner/tratamento farmacológico
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