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A Case of Congenital Lipoid Adrenal Hyperplasia
Journal of the Korean Pediatric Society ; : 567-573, 1995.
Artículo en Coreano | WPRIM | ID: wpr-197063
ABSTRACT
Congenital lipoid adrenal hyperplasia is the rarest type among salt losing types of congenital adrenal hyperplasia. The defect of this disorder is in the cholesterol side chain cleavage enzyme(P450SCC)which converts cholesterol to pregnenolone. W experienced a case of 20,22 desmolse deficiency in a 21-day old phenotypically female who was admitted to our hospital due to lethargy and dark skin pigmentation. The characteristic findings were decreased serum cortisol, aldosterone, testosterone, increased ACTH. The ACTH and hCG stimulation test were performed and there were no response. The sex chromosomal analysis showed made XY. One year later after hormone therapy, growth and development are normal.
Asunto(s)

Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Pregnenolona / Testosterona / Pigmentación de la Piel / Hidrocortisona / Colesterol / Hiperplasia Suprarrenal Congénita / Hormona Adrenocorticotrópica / Crecimiento y Desarrollo / Aldosterona / Letargia Límite: Femenino / Humanos Idioma: Coreano Revista: Journal of the Korean Pediatric Society Año: 1995 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Pregnenolona / Testosterona / Pigmentación de la Piel / Hidrocortisona / Colesterol / Hiperplasia Suprarrenal Congénita / Hormona Adrenocorticotrópica / Crecimiento y Desarrollo / Aldosterona / Letargia Límite: Femenino / Humanos Idioma: Coreano Revista: Journal of the Korean Pediatric Society Año: 1995 Tipo del documento: Artículo