RESUMEN
The prevalence of nephrocalcinosis in persons with pseudohypoparathyroidism has not been systematically examined. We conducted a retrospective study of renal imaging and biochemical results in 19 patients with pseudohypoparathyroidism with 49 imaging assessments. No cases of nephrocalcinosis were identified. Routine screening for nephrocalcinosis in pseudohypoparathyroidism may not be necessary.
Asunto(s)
Nefrocalcinosis/diagnóstico , Nefrocalcinosis/etiología , Seudohipoparatiroidismo/complicaciones , Adolescente , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Tamizaje Masivo , Nefrocalcinosis/epidemiología , Prevalencia , Estudios Retrospectivos , Factores de RiesgoRESUMEN
OBJECTIVE: To investigate newborn screening results in children with congenital hypopituitarism, including central hypothyroidism, and to determine whether there were differences between children who had abnormal results and children with normal newborn screening results. STUDY DESIGN: Medical records of children with central hypothyroidism observed in our pediatric endocrinology clinics from 1990 to 2006 were reviewed. RESULTS: Forty-two subjects (22 boys) were identified. Eight children (19%) had a low total thyroxine level (<5.0 mcg/dL) on the newborn screening test. The average total thyroxine level in the remaining 34 subjects was 9.8 +/- 3.4 mcg/dL. Thyrotropin levels were within the reference range in all children. No differences were found in the 2 groups for birth history, jaundice (53% overall), hypoglycemia (36% overall), or micropenis (43% of boys). Fifty-seven percent of children had septo-optic dysplasia, and 98% had multiple pituitary hormone deficiencies. Children with an abnormal newborn screening results were initially examined by a pediatric endocrinologist at an average age of 4.6 +/- 5.0 months, and children with normal newborn screening results were initially examined at an average age of 16.9 +/- 26.7 months (P = .037). CONCLUSIONS: Most children with congenital central hypothyroidism have normal thyroid function at birth. Normal newborn screening results can be falsely reassuring and may contribute to a delay in diagnosis of hypopituitarism despite classic clinical features.
Asunto(s)
Hipotiroidismo Congénito/diagnóstico , Hipopituitarismo/diagnóstico , Tamizaje Neonatal , Hipotiroidismo Congénito/etiología , Femenino , Humanos , Hipopituitarismo/complicaciones , Recién Nacido , Imagen por Resonancia Magnética , Masculino , Estudios Retrospectivos , Tirotropina/sangre , Tiroxina/sangreAsunto(s)
Anomalías Congénitas/diagnóstico por imagen , Hipotiroidismo Congénito/diagnóstico por imagen , Niño , Preescolar , Comorbilidad , Anomalías Congénitas/economía , Anomalías Congénitas/epidemiología , Hipotiroidismo Congénito/economía , Hipotiroidismo Congénito/epidemiología , Humanos , Riñón/anomalías , Riñón/diagnóstico por imagen , Riesgo , Ultrasonografía/economíaRESUMEN
We report a female infant with classic congenital adrenal hyperplasia (CAH), secondary to 21-hydroxylase deficiency, who was born to a mother with salt-wasting CAH.
Asunto(s)
Hiperplasia Suprarrenal Congénita/genética , Trastornos del Desarrollo Sexual/genética , Adulto , Femenino , Humanos , Recién NacidoRESUMEN
OBJECTIVE: To characterize the development of hypothyroidism in pediatric patients who receive a fixed dose of radioactive iodine (RAI). STUDY DESIGN: Medical records of children treated with fixed-dose RAI for Graves'disease between 1993 and 2001 were reviewed. Multiple variables including sex, age, thyroid hormone levels, thyroid-stimulating immunoglobulin titer, antithyroid medication use, and 24-hour radioiodine uptake were investigated as possible predictive factors for the development of hypothyroidism after treatment. All patients received RAI at a dose of between 13.8 and 15.6 mCi (average, 14.7 mCi; SD, 0.5). RESULTS: Permanent hypothyroidism developed in all 40 patients, although a second dose of RAI was required in one case. The average time to hypothyroidism was 77 days (SD, 32), with a range of 28 to 194 days; 75% of the patients were diagnosed with hypothyroidism between 40 and 90 days. RAI treatment was ineffective in an additional patient, who required subtotal thyroidectomy. CONCLUSIONS: We conclude that a fixed dose of RAI is effective therapy in nearly all pediatric patients with Graves'disease. Factors predicting the time course to hypothyroidism were not identified.