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congenital adrenal hiperplasia

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https://www.readbyqxmd.com/read/29733056/asociaci%C3%A3-n-de-leptina-con-factores-cardiometab%C3%A3-licos-en-escolares-y-adolescentes-con-hiperplasia-suprarrenal-cong%C3%A3-nita
#1
Jessie Nallely Zurita-Cruz, Miguel Ángel Villasís-Keever, Leticia Damasio-Santana, Leticia Manuel-Apolinar, Rosalba Ferrusca-Ceja, Elisa Nishimura-Meguro, Aleida de J Rivera-Hernández, Eulalia Garrido-Magaña
Introducción: En la hiperplasia suprarrenal congénita (HSC), la obesidad, la hiperinsulinemia y los niveles de leptina se encuentran incrementados. Objetivo: Identificar la frecuencia de los factores de riesgo cardiometabólico (FRC) en niños y adolescentes con HSC y explorar la relación con los niveles de leptina. Método: Estudio transversal de 40 pacientes a quienes se realizó somatometría y evaluación de glucosa, insulina, triglicéridos, 17-hidroxiprogesterona, leptina, colesterol HDL y LDL en ayuno...
2018: Gaceta Médica de México
https://www.readbyqxmd.com/read/29144824/17%C3%AE-hydroxylase-deficiency-is-an-underdiagnosed-disease-high-frequency-of-misdiagnoses-in-a-large-cohort-of-brazilian-patients
#2
Rafaela Fontenele, Marivânia Costa-Santos, Claudio E Kater
OBJECTIVE: 17α-Hydroxylase deficiency (P450c17D) is characterized by hypogonadism and mineralocorticoid hypertension. We aimed to estimate the relative incidence and spectrum of preliminary misdiagnoses in Brazilian P450c17D patients. METHODS: In this cross-sectional study, we reviewed, updated, and analyzed data of 40 P450c17D patients (21 XY, 19 XX). RESULTS: Complete data were unavailable for 2 patients. Seven patients were relatives of an index case...
February 2018: Endocrine Practice
https://www.readbyqxmd.com/read/28161392/-recommendations-for-the-diagnosis-and-treatment-of-classic-forms-of-21-hydroxylase-deficient-congenital-adrenal-hyperplasia
#3
Amparo Rodríguez, Begoña Ezquieta, José Igancio Labarta, María Clemente, Rafael Espino, Amaia Rodriguez, Aranzazu Escribano
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is an autosomal recessive disorder caused by mutations in the CYP21A2 gene. Cortisol and aldosterone synthesis are impaired in the classic forms (adrenal insufficiency and salt-wasting crisis). Females affected are virilised at birth, and are at risk for genital ambiguity. In this article we give recommendations for an early as possible diagnosis and an appropriate and individualised treatment. A patient and family genetic study is essential for the diagnosis of the patient, and allows genetic counselling, as well as a prenatal diagnosis and treatment for future pregnancy...
August 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
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