RESUMO
Van Wyk-Grumbach syndrome (VWGS) refers to the development of peripheral precocious puberty, long-standing hypothyroidism, and gonadal masses; when not diagnosed, an unnecessary gonadectomy may be performed. Herein, we present a case of a 10-year-old girl with Down's syndrome, short stature, and vitiligo who presented to our hospital with vaginal bleeding and a palpable pelvic mass. Upon ultrasound and topographical examination, bilateral ovarian masses with negative tumor markers were detected. After bilateral gonadectomy, endocrine studies revealed profound hypothyroidism and peripheral puberty that led to the VWGS syndrome diagnosis (TSH 367.3 mUI/mL, isolated menstruation, indetectable LH, and elevated estradiol). Levothyroxine treatment improved obesity and short stature, and sexual hormone replacement began at 13 years of age. The literature on Van Wyk-Grumbach syndrome shows that it presents most often in women, and classic hypothyroidism symptoms always precede the diagnosis. Approximately 11% of patients have Down's syndrome, sometimes tumor markers are elevated, and some develop severe symptoms (myopathy, short stature, mental delay, ascites, pericardial effusion, Cullen's sign, pituitary hyperplasia, and severe anemia) that respond to levothyroxine treatment. Conclusions: Children with peripheral precocious puberty and gonadal masses must be studied for hypothyroidism before any radical decision is made.
RESUMO
BACKGROUND: Neonatal Hearing Screening and Early Intervention (NHSEI) is a screening program to evaluate all infants and identify those with hearing impairment. The objective of this work was to determine the factors associated with hearing loss in NHSEI program. METHODS: Analytical cross-sectional study was performed. 234 infants were included in the NHSEI program, hearing was evaluated with transitory evoked otoacoustic emissions (TEOE) at frequencies of 1.5 to 4.5 kHz, and intensity of stimuli of 40-60 dB. The variables were: age from one to 28 days, sex, gestational age and perinatal history. Data was analyzed with descriptive statistics and binary logistic regression. RESULTS: The presence of risk factors in newborns resulted in significant omnibus test (p < 0.05) predicted value by Nagelkerke R square model of 77%. The background inherited family acquired infection, craniofacial abnormalities, low birth weight, respiratory distress at birth and genetic syndromes were factors significantly associated (p < 0.05) to hearing loss in infants. CONCLUSIONS: The incidence of hearing impairment in infants diagnosed by newborn hearing program was higher (5/234 newborns) than the reported in the literature.
Introducción: el Tamiz Auditivo Neonatal e Intervención Temprana (TANIT) es un programa de cribado que consiste en evaluar a todos los neonatos para identificar discapacidades auditivas. El objetivo de este trabajo fue determinar los factores asociados a hipoacusia en neonatos, basados en el programa TANIT. Métodos: estudio analítico, transversal, en el que se incluyeron 234 neonatos en el programa TANIT. La audición se exploró evaluando las emisiones otoacústicas transitorias evocadas (EOAT) en frecuencias de 1.5 a 4.5 kHz, y los estímulos con intensidad de 40-60 dB. Las variables fueron: edad de uno a 28 días de nacido, sexo, edad gestacional y antecedentes perinatales. Los datos se analizaron con estadística descriptiva y regresión logística binaria. Resultados: la presencia de los factores de riesgo en los neonatos resultó significativa en la prueba de ómnibus (p < 0.05), valor de predicción por el modelo R cuadrado de Nagelkerke de 77%. Los antecedentes heredofamiliares, la infección adquirida, las anormalidades craneofaciales, el bajo peso, la dificultad respiratoria al nacer y los síndromes genéticos fueron factores que se asociaron de manera significativa (p < 0.05) a hipoacusia en neonatos. Conclusiones: la incidencia de deficiencia auditiva en recién nacidos diagnosticada mediante el programa de TANIT fue mayor a la reportada en la literatura (5/234 recién nacidos).