RESUMEN
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder affecting cortisol and aldosterone biosynthesis, which can lead to virilization in fetuses with a 46,XX karyotype. 21-hydroxylase deficiency is the most common cause of CAH, accounting for 90-99% of all patients with the condition. The management of patients with CAH should be done with a multidisciplinary team, which would address all of the complex components of their care throughout their lifespans. Many multidisciplinary teams have adopted shared decision-making approaches to genital surgery in which parents and patients can be part of the decision-making process. Continued research is needed to best serve these patients throughout their lifespans.
Asunto(s)
Hiperplasia Suprarrenal Congénita , Humanos , Hiperplasia Suprarrenal Congénita/cirugía , Longevidad , Toma de Decisiones Conjunta , Cariotipificación , Atención al PacienteRESUMEN
Objectives Hypocalcemia following total thyroidectomy (TT) is relatively common. It may result in significant morbidity, prolonged hospital stay, and increased costs. Treatment with intravenous (IV) calcium gluconate may also carry significant risks. In pediatrics, management consensus guidelines are lacking. Methods At Phoenix Children's Hospital, a team of pediatric endocrinologists, surgeons and otolaryngologists developed a clinical pathway for patients undergoing TT. It was a Quality Improvement (QI) project with the primary aim of decreasing IV calcium gluconate use from a baseline of 68% to less than 40% over 15 months. Secondary aims included reducing hypocalcemia and length of hospitalization. Interventions included sending weekly pathway reminder emails, starting pre-operative calcium, and pathway implementation into the electronic health record. Results Twenty-seven patients underwent TT over 15 months. IV calcium gluconate use dropped to 48%. Hypocalcemia and length of hospitalization were 96% and 52.7 h (range 21.1-115.7) respectively. Pathway adherence improved after targeted interventions. Eleven (73%) of the 15 patients whose post-operative parathyroid hormone (PTH) nadir was below 15 pg/mL required IV calcium gluconate vs. two (17%) out of 12 with levels above this threshold. Conclusions Standardizing care allowed for objective outcome analysis. We learned that post-operative serum PTH level was the main risk factor for requiring IV calcium gluconate. Implementing the pathway as a QI project allows for revisions based on outcomes, ultimately resulting in a pathway that best utilizes our infrastructure to optimize care. Other pediatric institutions may face similar challenges and can potentially learn from our experience.
Asunto(s)
Hipocalcemia/terapia , Complicaciones Posoperatorias/terapia , Mejoramiento de la Calidad/organización & administración , Enfermedades de la Tiroides/cirugía , Tiroidectomía/efectos adversos , Adolescente , Edad de Inicio , Calcio/sangre , Niño , Vías Clínicas/organización & administración , Vías Clínicas/normas , Vías Clínicas/estadística & datos numéricos , Femenino , Humanos , Hipocalcemia/sangre , Hipocalcemia/epidemiología , Hipocalcemia/etiología , Ciencia de la Implementación , Tiempo de Internación/estadística & datos numéricos , Masculino , Disección del Cuello/efectos adversos , Disección del Cuello/métodos , Disección del Cuello/normas , Disección del Cuello/estadística & datos numéricos , Hormona Paratiroidea/sangre , Complicaciones Posoperatorias/sangre , Complicaciones Posoperatorias/epidemiología , Evaluación de Programas y Proyectos de Salud , Mejoramiento de la Calidad/normas , Estudios Retrospectivos , Enfermedades de la Tiroides/sangre , Enfermedades de la Tiroides/epidemiología , Tiroidectomía/normas , Tiroidectomía/estadística & datos numéricos , Estados Unidos/epidemiologíaRESUMEN
Newborn screening for congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency is mandated throughout the US. Filter paper blood specimens are assayed for 17-hydroxyprogesterone (17OHP). Prematurity, low birth weight, or critical illness cause falsely elevated results. The purpose of this report is to highlight differences in protocols among US state laboratories. We circulated a survey to state laboratory directors requesting qualitative and quantitative information about individual screening programs. Qualitative and quantitative information provided by 17 state programs were available for analysis. Disease prevalence ranged from 1:9941 to 1:28,661 live births. Four state laboratories mandated a second screen regardless of the initial screening results; most others did so for infants in intensive care units. All but one program utilized birthweight cut-points, but cutoffs varied widely: 17OHP values of 25 to 75 ng/mL for birthweights >2250-2500 g. The positive predictive values for normal birthweight infants varied from 0.7% to 50%, with the highest predictive values based in two of the states with a mandatory second screen. Data were unavailable for negative predictive values. These data imply differences in sensitivity and specificity in CAH screening in the US. Standardization of newborn screening protocols could improve the positive predictive value.
RESUMEN
Rare medical conditions are difficult to study due to the lack of patient volume and limited research resources, and as a result of these challenges, progress in the care of patients with these conditions is slow. Individuals born with differences of sex development (DSD) fall into this category of rare conditions and have additional social barriers due to the intimate nature of the conditions. There is also a lack of general knowledge in the medical community about this group of diverse diagnoses. Despite these limitations, progress has been made in the study of effective ways to care for patients who are born with chromosomal or anatomical differences of their internal reproductive organs or external genitalia. Advocacy groups have placed a spotlight on these topics and asked for a thoughtful approach to educate parents of newborns, medical providers, and the adolescents and young adults themselves as they mature.1 There is growing interest in the approaches to surgical reconstruction of the genitalia and the management of internal gonads, specifically the timing of procedures and the indications for those procedures.2 Advocates suggest deferring surgical procedures until the affected individual can participate in the decision-making process. This approach requires a roadmap for addressing the long-term implications of delayed surgical management. Presented here is a review of the specific issues regarding the complex management of the various categories of DSD.
Asunto(s)
Trastornos del Desarrollo Sexual/cirugía , Participación del Paciente , Procedimientos de Cirugía Plástica/métodos , Procedimientos Quirúrgicos Urogenitales/métodos , Adolescente , Factores de Edad , Niño , Preescolar , Trastornos del Desarrollo Sexual/diagnóstico , Trastornos del Desarrollo Sexual/psicología , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Participación del Paciente/métodos , Participación del Paciente/psicología , Atención Dirigida al Paciente , Relaciones Profesional-Familia , Relaciones Profesional-Paciente , Procedimientos de Cirugía Plástica/ética , Procedimientos de Cirugía Plástica/psicología , Procedimientos Quirúrgicos Urogenitales/ética , Procedimientos Quirúrgicos Urogenitales/psicología , Adulto JovenRESUMEN
The care of infants with congenital adrenal hyperplasia has recently been examined and principles of shared decision making are being used to aid families at that crucial stage of care. Although there is no rigorous data to support delay of surgery, some families are choosing to wait until the patient can participate in choosing the course of care. Whether patients undergo reconstructive procedures or not in the newborn period, they may need or desire revision or primary surgeries as an adolescent or young adult. The first priority for one of these young, now more autonomous, patients is to help them take charge of their own care and develop an understanding of their medical needs. In the process of providing that education, providers and teams can connect to the patient, their caregivers and advocates in a way that allows further investigation into possible medical and surgical needs in a less pressurized situation.
Asunto(s)
Hiperplasia Suprarrenal Congénita/terapia , Toma de Decisiones Conjunta , Transición a la Atención de Adultos , Adolescente , Lista de Verificación , Identidad de Género , Humanos , Educación del Paciente como AsuntoRESUMEN
Background Shared decision-making (SDM) is the process by which patients/families and providers make healthcare decisions together. Our team of multidisciplinary disorders of sex development (DSD) has developed an SDM tool for parents and female patients with congenital adrenal hyperplasia (CAH) and associated genital atypia. What is new Elective genital surgery is considered controversial. SDM in a patient with genital atypia will allow patient/family to make an informed decision regarding surgical intervention. Case presentation Our patient is a 2.5-year-old female with CAH and genital atypia. Initially, her parents had intended to proceed with surgery; however, after utilizing the SDM checklist, they made an informed decision to defer urogenital sinus surgery for their daughter. Conclusions We successfully utilized an SDM tool with parents of a female infant with CAH and genital atypia, which allowed them to make an informed decision regarding surgery for their daughter. Future directions include a prospective enrolling study to determine the generalizability and applicability of SDM with families of children diagnosed with CAH.
Asunto(s)
Hiperplasia Suprarrenal Congénita/cirugía , Toma de Decisiones Conjunta , Trastornos del Desarrollo Sexual/cirugía , Padres/psicología , Procedimientos Quirúrgicos Urogenitales/psicología , Preescolar , Femenino , Humanos , Recién Nacido , Difusión de la Información , Pronóstico , Procedimientos Quirúrgicos Urogenitales/estadística & datos numéricosRESUMEN
BACKGROUND: Congenital hyperthyroidism can be a cause of failure to thrive, hyperactivity, developmental delay, and craniosynostosis during infancy. Most commonly, the condition occurs in the setting of maternal autoimmune thyroid disease. Rarely, congenital hyperthyroidism can also occur secondary to activating mutations within the thyrotropin (TSH) receptor. PATIENT FINDINGS: A Hispanic male infant presented at age 6 months with severe thyrotoxicosis. At the time of presentation he was being evaluated for squamosal suture synostosis and he was noted to have significant developmental delays. SUMMARY: The patient's thyrotoxicosis was initially treated with antithyroid medication, and he subsequently underwent craniosynostosis repair leading to neurodevelopmental improvement. DNA from the patient and his parents was submitted for mutational analysis of exons 9 and 10 of the TSH receptor. He was found to carry a monoallelic transition 1895C>T in exon 10 that resulted in the substitution of threonine at position 632 by isoleucine (T32I). This mutation resulted in constitutive activation of the TSH receptor. Neither parent carried this mutation indicating that the child has acquired a de novo germline mutation. CONCLUSIONS: We report the first case of squamosal suture craniosynostosis in a patient with non-autoimmune hyperthyroidism. Squamosal suture craniosynotosis is rare, often has a subtle presentation, and should be considered in all patients with this condition because prompt treatment of hyperthyroidism and craniosynotosis repair can lead to normalization of neurodevelopment.
Asunto(s)
Craneosinostosis/genética , Hipertiroidismo/genética , Mutación , Receptores de Tirotropina/genética , Preescolar , Análisis Mutacional de ADN , Humanos , Lactante , MasculinoRESUMEN
CONTEXT: Macrosomic infants are at increased risk for adverse metabolic outcomes. Improving prediction of large-for-gestational-age (LGA) birth may help prevent these outcomes. OBJECTIVE: This study sought to determine whether genes associated with obesity-related traits in adults are associated with newborn size, and whether a genetic risk score (GRS) predicts LGA birth. SETTING AND DESIGN: Single nucleotide polymorphisms (SNPs) in 40 regions associated with adult obesity-related traits were tested for association with newborn size. GRS's for birth weight and sum of skinfolds (SSF) specific to ancestry were calculated using the most highly associated SNP for each ancestry in genomic regions with one or more SNPs associated with birth weight and/or SSF in at least one ancestry group or meta-analyses. PARTICIPANTS: Newborns from the Hyperglycemia Adverse Pregnancy Outcomes Study were studied (942 Afro-Caribbean, 1294 Northern European, 573 Mexican-American, and 1182 Thai). OUTCOME MEASURES: Birth weight >90th percentile (LGA) and newborn SSF >90th percentile were primary outcomes. RESULTS: After adjustment for ancestry, sex, gestational age at delivery, parity, maternal genotype, maternal smoking/alcohol intake, age, body mass index, height, blood pressure and glucose, 25 and 23 SNPs were associated (P < .001) with birth weight and newborn SSF, respectively. The GRS was highly associated with both phenotypes as continuous variables across all ancestries (P ≤ 1.6 × 10(-19)) and improved prediction of birth weight and SSF >90th percentile when added to a baseline model incorporating the covariates listed above. CONCLUSIONS: A GRS comprised of SNPs associated with adult obesity-related traits may provide an approach for predicting LGA birth and newborn adiposity beyond established risk factors.
Asunto(s)
Adiposidad/genética , Macrosomía Fetal/genética , Predisposición Genética a la Enfermedad , Obesidad/genética , Polimorfismo de Nucleótido Simple , Adulto , Alelos , Peso al Nacer , Femenino , Estudios de Asociación Genética , Edad Gestacional , Humanos , Recién Nacido , Masculino , EmbarazoRESUMEN
Small for gestational age (weight for gestational age <10th percentile, SGA) birth status and adulthood susceptibility to diabetes is well established, but the relationship to diabetes during pregnancy is incompletely understood. The authors investigated the association between women's impaired fetal growth (as measured by SGA status) and diabetes mellitus (DM) during pregnancy. Stratified and multivariable binomial regression analyses were performed on the Illinois transgenerational dataset. Former SGA (n = 13,934) mothers had a greater prevalence of DM during pregnancy than former appropriate for gestational age (AGA) mothers (n = 116,683): 2.7 versus 1.9 %, relative prevalence (RP) equaled 1.4 [95 % confidence interval (CI)1.3, 1.6]. In a multivariable binomial regression model, the adjusted RP (95 %CI) (controlling for maternal age, education, parity, plurality, marital status, and race/ethnicity) for DM during pregnancy for former SGA (compared to AGA) mothers equaled 1.5 (1.3, 1.6). When stratified by race/ethnicity, the adjusted RP (95 % CI) of DM during pregnancy for former SGA (compared to AGA), non-Latina White, African-American, and Mexican-American mothers was 1.4 (1.3, 1.6), 1.6 (1.2, 2.1), and 2.3 (1.1, 4.7), respectively. The authors conclude that impaired fetal growth (as measured by SGA status) is a risk factor for DM during pregnancy among the leading racial/ethnic groups in the United States.