Hypoplasie congénitale des surrénales : à propos de quatre observations

Pélissier, P.; Merlin, E.; Prieur, Fabienne; David, Maria Luísa Diaz Cunha; Malpuech, G; Forest, Maguelone G.; Morel, Yves; Nicolino, Marc; Richard, Olivier

doi:10.1016/j.arcped.2005.01.007

Cited by 7 publications

(1 citation statement)

References 19 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…DAX1 is expressed in the adrenal cortex, in the pituitary, in the hypothalamic ventral nucleus, in Sertoli and Leydig cells in the testis, and in theca and granulosa cells in the ovary (3,5,6). X-linked AHC has variable clinical presentations (7,8,9). Boys with DAX1 mutations typically present with primary adrenal failure.…”

Section: Introductionmentioning

confidence: 99%

Primary Adrenal Insufficiency Caused by a Novel Mutation in DAX1 Gene

Evliyaoğlu

Dokurel²,

Bucak³

et al. 2013

Jcrpe

View full text Add to dashboard Cite

Adrenal hypoplasia congenita (AHC) is a rare disorder. The X-linked form is related to mutations in the DAX1 (NROB1) gene. Here, we report a newborn who had a novel hemizygous frameshift mutation in DAX1 (c.543delA) and presented with primary adrenal failure that was initially misdiagnosed as congenital adrenal hyperplasia. This report highlights the value of genetic testing for definite diagnosis in children with primary adrenal failure due to abnormal adrenal gland development, providing the possibility both for presymptomatic, and in cases with a sibling with this condition, for prenatal diagnosis.Conflict of interest:None declared.

show abstract

Section: Introductionmentioning

confidence: 99%

Primary Adrenal Insufficiency Caused by a Novel Mutation in DAX1 Gene

Evliyaoğlu

Dokurel²,

Bucak³

et al. 2013

Jcrpe

View full text Add to dashboard Cite

show abstract

X-linked adrenal hypoplasia congenita: a novel DAX1 missense mutation and challenges for clinical diagnosis in Africa

et al. 2011

View full text Add to dashboard Cite

Adrenal hypoplasia congenita (AHC) is a rare disease. The X-linked form of AHC is caused by deletions or mutations in DAX1 gene and has a variable clinical presentation. To date, no data on X-linked AHC in central Africa are available. Here, we report a Congolese pedigree with several cases of unexplained deaths of male infants. A careful analysis of the pedigree of this family lead to the recognition of an X-linked inheritance pattern, with subsequent confirmation in a female heterozygous carrier of a DAX1 missense mutation c.1274G>T, (p.Arg425Ile).The diagnosis of this condition remains challenging in a developing country, since the manifestations of AHC overlap with those of the much more frequently occurring infections; darkening of the skin is difficult to evaluate and there is a lack of access to routine endocrinological testing. The diagnosis was eventually made based on the family pedigree, evoking an X-linked inheritance pattern. This illustrates the necessity for medical and clinical genetics to be part of the curriculum of medical school in developing countries.

show abstract