Unusual Combination of MEN-1 and the Contiguous Gene Deletion Syndrome of CAH and Ehlers-Danlos Syndrome (CAH-X)

The contiguous gene deletion syndrome of congenital adrenal hyperplasia and Ehlers-Danlos syndrome, named CAH-X, is a rare entity that occurs because of a deletion of a chromosomal area containing 2 neighboring genes, TNXB and CYP21A. Here, we describe a patient from a consanguineous family in which...

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Veröffentlicht in:	Journal of the Endocrine Society 2020-08, Vol.4 (8)
Hauptverfasser:	Cardenas, Stanley M. Chen, El-Kaissi, Samer, Jarad, Ola, Liaqat, Muneezeh, Korbonits, Marta, Hamrahian, Amir H
Format:	Artikel
Sprache:	eng
Schlagworte:	Bones Cabergoline Case Reports Cinacalcet Cytochrome P-450 Cytogenetics Density Ehlers-Danlos syndrome Fludrocortisone Genes Hydroxyprogesterone Pantoprazole Parathyroid hormone
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