Familiar inheritance of X-linked Congenital Adrenal Hypoplasia: even genetic counseling may sometimes fail!
DOI:
https://doi.org/10.6092/1828-6550/APMB.105.1.2017.A5Parole chiave:
congenital adrenal hypoplasia, acute adrenal insufficiency, salt-wasting dehydration, genetic counseling, DAX-1 geneAbstract
Congenital Adrenal hypoplasia (CAH) is a rare genetic disorder which can present two distinct modalities of transmission: recessive X-linked or recessive autosomal modality. That linked to the X chromosome is generally associated with hypogonadotropic hypogonadism (HH). In this case, the gene responsible is DAX-1. We report the history of an infant 36-days old who was admitted to our clinic complaining of acute adrenal insufficiency (AAI), salt wasting and metabolic acidosis. He was the nephew of one of our patients with X-linked CAH. The main causes of early onset AAI were excluded and on the basis of family history we suspected diagnosis of X-linked CAH. Therefore, replacement therapy with gluco- and mineral-corticoids was started immediately. Molecular analyses confirmed the occurrence of DAX-1 gene mutation F449fsX461. His maternal uncle was already recognized to suffer from this disorder, while his mother, grandmother and maternal aunt carried the DAX-1 mutation in heterozygosis. This case report stress the role of genetic counseling in families with DAX-1 gene mutation
Riferimenti bibliografici
Jadhav, U., Harris, R.M., Jameson, J.L. (2011). Hypogonadotropic hypogonadism in subjects with DAX1 mutations. Mol Cellular Endocrinol, 22, 346(1-2), 65-73.
Wasniewska, M., De Luca, F., Lombardo, F., Messina, M.F., Valenzise, M., Lasco, A., Arrigo, T. (2001). A Novel Frameshift Mutation of the DAX-1 Gene in a Boy with X-Linked Adrenal Hypoplasia Congenita and No Early Impairment of the Hypothalamus-Pituitary-Gonadal Axis. J Endocrine Genet, 2, 99-104
Krone, N., Riepe, F.G., Dörr, H.G., Morlot, M., Rudorff, K.H., Drop, S.L.S., Weigel, J., Pura, M., Kreze, A., Boronat, M., De Luca, F., Tiulpakov, A., Partsch, C.J., Peter, M., and Sippell, W.G. (2005). Thirteen Novel Mutations in the NR0B1 (DAX1) Gene as Cause of Adrenal Hypoplasia Congenita. Human mutation, Mutation in Brief #802 Online
Liua, Y., Yuana, J., Zhang, H., Jiang, Y. and Qin, G. (2017). A novel DAX-1 mutation in two male siblings presenting with precocious puberty and late-onset hypogonadotropic hypogonadism. J Ped Endocrinol Metab, 30(3), 349–353
Wang, C.L., Fen, Z.W. and Liang, L. (2014). A de novo mutation of DAX1 in a boy with congenital adrenal hypoplasia without hypogonadotropic hypogonadism. J Ped Endocrinol Metab, 27(3-4), 343–347.
Ostermanna, S., Salvia, R., Lang-Muritanob, M., Voirola, M.J., Puttingerc, R., Gaillarda, R.C., Schoenleb, E., Pralonga, F.P. (2006). Importance of Genetic Diagnosis of DAX-1 Deficiency: Example from a Large, Multigenerational Family. Horm Res, 65, 163–168
Dowloads
Pubblicato
Fascicolo
Sezione
Licenza
This work is licensed under a Creative Commons Attribution 4.0 International License.
- Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
- Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
- Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access).
