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RESUMEN Los tumores de ovario son raros en pediatría. En este grupo, los tumores de células esteroideas representan el 0,1% de los casos y existen escasos reportes en la literatura. Presentamos el caso de una niña de 11 años con síntomas de engrosamiento de la voz, hirsutismo, acné y clitoromegalia. El análisis de laboratorio mostró niveles elevados de testosterona total y libre, niveles normales de 17-hidroxiprogesterona. La evaluación ecográfica reveló un agrandamiento significativo del ovario izquierdo. La paciente fue sometida a salpingooforectomía izquierda. Este hallazgo fue consistente con un tumor de células esteroideas de ovario. A esto le siguió la reducción gradual de los andrógenos y la mejoría clínica. Los tumores de células esteroideas son raros en pediatría, sin embargo, deben considerarse como diagnóstico diferencial al estudiar pacientes con síntomas de hiperandrogenismo.
ABSTRACT Ovarian tumors are rare in pediatrics. In this group, steroid cell tumors represent 0.1% of total cases and there are few reports in the literature. We present the case of an 11-year-old girl who suffered from deeper voice, hirsutism, acne and clitoromegaly. Analysis showed elevated levels of total and free testosterone, normal levels of 17-hydroxyprogesterone. Ultrasound evaluation revealed significant enlargement of the left ovary. The patient underwent left salpingo-oophorectomy. This finding is consistent with an ovarian steroid cell tumor. This is followed by gradual reduction of androgens and clinical improvement. Steroid cell tumors are rare in pediatrics, however, they should be considered as a differential diagnosis when studying patients with symptoms of hyperandrogenism.
RESUMEN
OBJECTIVES: Congenital hyperinsulinism (HI) is a heterogeneous clinical disorder with great variability in its clinical phenotype, and to date, pathogenic variants in 23 genes have been recognized. Hyperinsulinism-hyperammonemia syndrome (HI/HA) is the second most frequent cause of this disease that shows an autosomal dominant pattern and is caused by an activating mutation of the GLUD1 gene, which responds favorably to the use of diazoxide. HI/HA syndrome presents with fasting hypoglycemia; postprandial hypoglycemia, especially in those with a high protein content (leucine); and persistent mild hyperammonemia. Neurological abnormalities, in the form of epilepsy or neurodevelopmental delay, are observed in a high percentage of patients; therefore, timely diagnosis is crucial for proper management. CASE PRESENTATION: We report the clinical presentation of two Peruvian children that presented with epilepsy whose genetic analysis revealed a missense mutation in the GLUD1 gene, one within exon 11, at 22% mosaicism; and another within exon 7, as well as their response to diazoxide therapy. To the best of our knowledge, these are the first two cases of HI/HA syndrome reported in Peru. CONCLUSIONS: HI/HA syndrome went unnoticed, because hypoglycemia was missed and were considered partially controlled epilepsies. A failure to recognize hypoglycemic seizures will delay diagnosis and adequate treatment, so a proper investigation could avoid irreversible neurological damage.