Subject(s)
Adenoma/etiology , Hypothyroidism/complications , Pituitary Gland/pathology , Pituitary Neoplasms/etiology , Child , Female , Humans , HyperplasiaABSTRACT
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Subject(s)
Humans , Female , Child , Hypothyroidism/complications , Pituitary Neoplasms/diagnosis , Pituitary Neoplasms/etiology , Hyperplasia/diagnosis , Adenoma/diagnosis , Magnetic Resonance Imaging , Diagnosis, Differential , Thyroxine/therapeutic useABSTRACT
Neonatal diabetes mellitus (NDM) is characterized by hyperglycemia within the first month of life and insulin dependence for at least two weeks. There are two types of NDM, transient (TNDM) and permanent (PNDM), which are genetically different. We report the case of two brothers who developed hyperglycemia without ketosis on the 18th day and 2 h of life, respectively. Thyroid function tests, abdominal ultrasound and karyotype where normal and there were no pancreatic antibodies. The first one required insulin therapy for the first 92 days of life and the second for 5 months. The mother developed gestational diabetes during both pregnancies and she was later diagnosed diabetes mellitus (without antibodies). They were studied for mutations in KCNJ11 gene (principally related to the permanent form). The three of them showed the E229K mutation (frequently associated with the transient form). A genetic study is essential in NDM to achieve the most accurate prognosis possible.
Subject(s)
Diabetes, Gestational/epidemiology , Diabetes, Gestational/genetics , Point Mutation/genetics , Potassium Channels, Inwardly Rectifying/genetics , Female , Humans , Infant, Newborn , Male , Phenotype , PregnancyABSTRACT
La diabetes mellitus neonatal (DMN) se caracteriza por hiperglucemia que se manifiesta en el primer mes de vida, precisa insulinoterapia y dura como mínimo 2 semanas. Existen dos formas de DMN: transitoria (DMNT) y permanente (DMNP), genéticamente diferentes. Presentamos dos hermanos, con hiperglucemia sin cetosis, a los 18 días y a las 2 h de vida, respectivamente. En ambos casos las pruebas complementarias (función tiroidea, ecografías abdominales, cariotipo) resultaron normales y los anticuerpos antipancreáticos, negativos. Precisaron insulinoterapia hasta los 92 días y los 5 meses de vida, respectivamente. La madre presentó diabetes gestacional en ambos embarazos y, posteriormente, se le diagnosticó diabetes mellitus, con anticuerpos negativos. En el estudio del gen KCNJ11, cuyas alteraciones se asocian principalmente a DMNP, se halló en los tres pacientes la mutación E229K, la cual está relacionada con DMNT. En la DMN es imprescindible el estudio genético para establecer el pronóstico más preciso possible (AU)
Neonatal diabetes mellitus (NDM) is characterized by hyperglycemia within the first month of life and insulin dependence for at least two weeks. There are two types of NDM, transient (TNDM) and permanent (PNDM), which are genetically different. We report the case of two brothers who developed hyperglycemia without ketosis on the 18th day and 2 h of life, respectively. Thyroid function tests, abdominal ultrasound and karyotype where normal and there were no pancreatic antibodies. The first one required insulin therapy for the first 92 days of life and the second for 5 months. The mother developed gestational diabetes during both pregnancies and she was later diagnosed diabetes mellitus (without antibodies).They were studied for mutations in KCNJ11 gene (principally related to the permanent form). The three of them showed the E229K mutation (frequently associated with the transient form). A genetic study is essential in NDM to achieve the most accurate prognosis posible (AU)
Subject(s)
Humans , Male , Infant, Newborn , Diabetes Mellitus/complications , Diabetes Mellitus/diagnosis , Mutation/genetics , Mutagenesis/physiology , Insulin/therapeutic use , Diabetes, Gestational/complications , Hyperglycemia/complications , Hyperglycemia/diagnosis , Diabetes Mellitus/epidemiology , Diabetes Mellitus/geneticsABSTRACT
Steroid 11beta-hydroxylase deficiency is the second most common cause of congenital adrenal hyperplasia. 11beta-hydroxylase intervenes in cortisol synthesis and its deficiency leads to accumulation of adrenal androgens--producing prenatal virilization and, subsequently, hyperandrogenism--as well as 11-deoxycorticosterone, leading to the development of hypertension. We describe a 7-year-old girl who was referred for pubarche and accelerated skeletal maturation due to 11beta-hydroxylase deficiency. Because the patient's predicted height was below her target height, the combination of gonadotropin-releasing hormone analog and growth hormone was added to oral glucocorticoid therapy. With this therapeutic strategy, the patient's predicted height improved significantly and the girl reached a final height in agreement with her target height at the age of 13 years and 6 months.
Subject(s)
Adrenal Hyperplasia, Congenital/drug therapy , Glucocorticoids/therapeutic use , Gonadotropin-Releasing Hormone/analogs & derivatives , Gonadotropin-Releasing Hormone/therapeutic use , Growth Hormone/therapeutic use , Steroid 11-beta-Hydroxylase , Administration, Oral , Adrenal Hyperplasia, Congenital/diagnosis , Age Factors , Body Height , Child , Drug Therapy, Combination , Female , Follow-Up Studies , Glucocorticoids/administration & dosage , Gonadotropin-Releasing Hormone/administration & dosage , Growth Hormone/administration & dosage , Humans , Prognosis , Steroid 11-beta-Hydroxylase/metabolism , Time Factors , Treatment OutcomeABSTRACT
El déficit de 11Beta-hidroxilasa es la segunda causa más frecuente de hiperplasia suprarrenal congénita. La 11Beta-hidroxilasa interviene en la síntesis de cortisol y su déficit conlleva acumulación de andrógenos, produciendo virilización prenatal e hiperandrogenismo posterior, y 11-desoxicorticosterona, causante de hipertensión arterial. Se presenta una paciente de 7 años remitida por pubarquia y maduración ósea acelerada, debidas a déficit de 11Beta-hidroxilasa. Debido a que su pronóstico de talla final era muy inferior a su talla genética, se asoció la combinación de análogos de la hormona liberadora de hormona luteinizante (LHRH) y hormona de crecimiento al tratamiento con corticoides orales. Con dicha combinación terapéutica, su pronóstico de talla final mejoró significativamente, alcanzando a los 13 años y 6 meses una talla acorde a su talla
Steroid 11Beta-hydroxylase deficiency is the second most common cause of congenital adrenal hyperplasia. 11Beta-hydroxylase intervenes in cortisol synthesis and its deficiency leads to accumulation of adrenal androgens producing prenatal virilization and, subsequently, hyperandrogenism as well as 11-deoxycorticosterone, leading to the development of hypertension. We describe a 7-year-old girl who was referred for pubarche and accelerated skeletal maturation due to 11Beta-hydroxylase deficiency. Because the patient's predicted height was below her target height, the combination of gonadotropin-releasing hormone analog and growth hormone was added to oral glucocorticoid therapy. With this therapeutic strategy, the patient's predicted height improved significantly and the girl reached a final height in agreement with her target height at the age of 13 years and 6 months
Subject(s)
Female , Child , Humans , Adrenal Hyperplasia, Congenital/drug therapy , Gonadotropin-Releasing Hormone/therapeutic use , Steroid 11-beta-Hydroxylase/analysis , Growth Disorders/drug therapy , Adrenal Cortex Hormones/therapeutic useABSTRACT
We describe two cases of disseminated histoplasmosis, which are of interest due to their severity and the infrequency of this infection in our environment. Both children were immunocompromised immigrants from Latin America who developed prolonged fever, weight loss, hepatosplenomegaly and pancytopenia. One patient had respiratory symptoms with associated alterations on x-ray, while no radiological alterations were found in the other patient. Despite administration of broad-spectrum antibiotics and extraction of samples for microbiological analysis, both patients had a rapid and fatal outcome and the diagnosis was made post mortem. Because of its severity, disseminated histoplasmosis should be considered in the differential diagnosis of fever, hepatosplenomegaly and pancytopenia, with or without alterations on chest x-ray, in immunosuppressed children who were born in or have visited endemic regions. In these patients, therapy should be started immediately without waiting for the results of diagnostic tests.
Subject(s)
Histoplasmosis/diagnosis , Child , Diagnosis, Differential , Emigration and Immigration , Fatal Outcome , Humans , Immunocompromised Host , MaleABSTRACT
Presentamos 2 casos de histoplasmosis diseminada en niños por su infrecuencia en nuestro medio y su gravedad. Se trata de 2 varones de origen latinoamericano con una inmunodeficiencia de base. Ambos presentan manifestaciones clínicas comunes, con fiebre, hepatoesplenomegalia y pancitopenia. Uno de ellos presentaba síntomas respiratorios, con alteraciones radiográficas asociadas, y en el otro los controles radiológicos eran normales. A pesar de la administración de tratamiento antibiótico de amplio espectro y de la recogida de muestras para microbiología, la evolución de ambos tuvo un rápido y fatal desenlace y el diagnóstico se realizó post mortem. Por la gravedad de esta enfermedad es importante insistir en que ante la tríada de fiebre, hepatoesplenomegalia y pancitopenia, con o sin alteraciones en la radiografía de tórax, en pacientes con factores de riesgo, se debe considerar la histoplasmosis como posible diagnóstico y, a partir de la sospecha clínica, orientar el estudio microbiológico e iniciar un tratamiento precoz
We describe two cases of disseminated histoplasmosis, which are of interest due to their severity and the infrequency of this infection in our environment. Both children were immunocompromised immigrants from Latin America who developed prolonged fever, weight loss, hepatosplenomegaly and pancytopenia. One patient had respiratory symptoms with associated alterations on x-ray, while no radiological alterations were found in the other patient. Despite administration of broad-spectrum antibiotics and extraction of samples for microbiological analysis, both patients had a rapid and fatal outcome and the diagnosis was made post mortem. Because of its severity, disseminated histoplasmosis should be considered in the differential diagnosis of fever, hepatosplenomegaly and pancytopenia, with or without alterations on chest x-ray, in immunosuppressed children who were born in or have visited endemic regions. In these patients, therapy should be started immediately without waiting for the results of diagnostic tests
