RESUMO
The absence of one or both testicles in the scrotal position is defined as cryptorchidism. It occurs in 1 - 8 % of full-term newborns and up to 45 % of preterm newborns. Its detection is of great importance due to its association with fertility disorders and the risk of malignancy. The National Endocrinology Committee of the Sociedad Argentina de Pediatría decided to prepare an update document on advances in the diagnosis and treatment of cryptorchidism that contributes to the performance of pediatric practice and allows recognition of conditions that may be accompanied by cryptorchidism, but need more evaluation and referral to a specialist, such as alterations/differences in sexual development, anorchia, genetic syndromes, among others. The first-line treatment is early orchiopexy before 12 to 18 months, always in the hands of pediatric surgeons.
Se define como criptorquidia, o criptorquidismo, a la ausencia de uno o ambos testículos en la posición escrotal. Se presenta en el 1-8 % de los recién nacidos de término y hasta en el 45 % de los pretérmino. Es de gran importancia su detección oportuna por su asociación con alteraciones de la fertilidad y el riesgo de malignidad. El Comité Nacional de Endocrinología de la Sociedad Argentina de Pediatría decidió elaborar un documento de actualización sobre los avances en el diagnóstico y tratamiento de la criptorquidia, útil para la práctica pediátrica y que permita identificar condiciones que puedan acompañarse de criptorquidia, pero que merezcan una evaluación más profunda y derivación al especialista (alteraciones/diferencias en el desarrollo sexual, anorquia, síndromes genéticos). El tratamiento de primera línea es la orquidopexia temprana (antes de los 12 a 18 meses), siempre en manos de cirujanos pediátricos.
RESUMO
Introduction: Practice guidelines cannot recommend establishing a diagnosis of growth hormone deficiency (GHD) without performing growth hormone stimulation tests (GHST) in children with risk factors, due to the lack of sufficient evidence. Objective: Our goal was to generate an evidence-based prediction rule to diagnose GHD in children with growth failure and clinically identifiable risk factors. Methods: We studied a cohort of children with growth failure to build the prediction model, and a second, independent cohort to validate the prediction rule. To this end, we assessed the existence of: pituitary dysgenesis, midline abnormalities, (supra)sellar tumor/surgery, CNS infection, traumatic brain injury, cranial radiotherapy, chemotherapy, genetic GHD, pituitary hormone deficiencies, and neonatal hypoglycemia, cholestasis, or hypogenitalism. Selection of variables for model building was performed using artificial intelligence protocols. Specificity of the prediction rule was the main outcome measure in the validation set. Results: In the first cohort (n=770), the resulting prediction rule stated that a patient would have GHD if (s)he had: pituitary dysgenesis, or two or more anterior pituitary deficiencies, or one anterior pituitary deficiency plus: neonatal hypoglycemia or hypogenitalism, or diabetes insipidus, or midline abnormalities, or (supra)sellar tumor/surgery, or cranial radiotherapy ≥18 Gy. In the validation cohort (n=161), the specificity of the prediction rule was 99.2% (95% CI: 95.6-100%). Conclusions: This clinical rule predicts the existence of GHD with high specificity in children with growth disorders and clinically identifiable risk factors, thus providing compelling evidence to recommend that GHD can be safely diagnosed without recurring to GHST in neonates and children with growth failure and specific comorbidities.