scholarly journals X-Linked Adrenal Hypoplasia Congenita

2020 ◽  
Author(s):  
Keyword(s):  
Adrenal Hypoplasia Congenita ◽  
Adrenal Hypoplasia

Novel Mutations in DAX1 of X-Linked Adrenal Hypoplasia Congenita Over Several Generations in One Family

2013 ◽  
Vol 19 (4) ◽  
pp. e105-e111 ◽  
Author(s):  
Xu Xiao-qin ◽  
Feng Yue-ying ◽  
Yuan Wen-xia ◽  
Huang Ke ◽  
Liang Li ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Adrenal Hypoplasia Congenita ◽  
Adrenal Hypoplasia

Delayed diagnosis of adrenal hypoplasia congenita in two adult brothers

1995 ◽  
Vol 28 (3) ◽  
pp. 333
Author(s):  
V. Chetty ◽  
J.D. Booth ◽  
E. Dunn ◽  
S. Hill ◽  
G. Luxton
Keyword(s):  
Delayed Diagnosis ◽  
Adrenal Hypoplasia Congenita ◽  
Adrenal Hypoplasia

scholarly journals A novel DAX1/NR0B1 mutation in a patient with adrenal hypoplasia congenita and hypogonadotropic hypogonadism

2012 ◽  
Vol 56 (8) ◽  
pp. 496-500 ◽  
Author(s):  
Claudilene Battistin ◽  
Hamilton Cabral de Menezes Filho ◽  
Sorahia Domenice ◽  
Mirian Yumie Nishi ◽  
Thais Della Manna ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Hypogonadotropic Hypogonadism ◽  
Failure To Thrive ◽  
The Novel ◽  
Site Analysis ◽  
Adrenal Hypoplasia Congenita ◽  
Normal Individuals ◽  
Exon 1 ◽  
Adrenal Hypoplasia ◽  
Low Levels

We report a case of adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HH) due to a novel DAX1 mutation. A 19-month-old boy with hyperpigmentation and failure to thrive came to our service for investigation. Three brothers of the patient had died due to adrenal failure, and a maternal cousin had adrenal insufficiency. Adrenoleukodystrophy was excluded. MRI showed normal pituitary and hypothalamus. Plasma hormone evaluation revealed high ACTH (up to 2,790 pg/mL), and low levels of androstenedione, DHEA-S, 11-deoxycortisol, and cortisol. At 14 years of age the patient was still prepubescent, his weight was 43.6 kg (SDS: -0.87) and his height was 161 cm (SDS: -0.36), with normal body proportions. In the GnRH test, basal and maximum values of LH and FSH were respectively 0.6/2.1 and < 1.0/< 1.0 U/L. Molecular investigation identified a novel mutation that consists of a deletion of codon 372 (AAC; asparagine) in exon 1 of DAX1. This mutation was not found in a study of 200 alleles from normal individuals. Prediction site analysis indicated that this alteration, located in the DAX1 ligand-binding domain, may damage DAX1 protein. We hypothesize that the novel (p.Asp372del) DAX1 mutation might be able to cause a disruption of DAX1 function, and is probably involved in the development of AHC and HH in this patient. Arq Bras Endocrinol Metab. 2012;56(8):496-500

X-linked adrenal hypoplasia congenita: DAX1 mutation

2019 ◽  
Vol 493 ◽  
pp. S232
Author(s):  
S. Larrauri Monterroso ◽  
J. Del Olmo Sedano ◽  
D. Armas Méndez ◽  
I. Martínez Roda ◽  
S. Domenech Manteca ◽  
...  
Keyword(s):  
Adrenal Hypoplasia Congenita ◽  
Adrenal Hypoplasia

X-linked adrenal hypoplasia congenita: Novel missense mutation of DAX-1 gene

2019 ◽  
Vol 152 (6) ◽  
pp. 242-243
Author(s):  
Ángela Domínguez García ◽  
Alfredo Santana Rodríguez ◽  
María Fátima Cabrera Guedes
Keyword(s):  
Missense Mutation ◽  
Adrenal Hypoplasia Congenita ◽  
Adrenal Hypoplasia

Adrenal hypoplasia congenita – an uncommon reason of primary adrenal insufficiency

2010 ◽  
Vol 71 (4) ◽  
pp. 309-313 ◽  
Author(s):  
M. Fichna ◽  
M. Żurawek ◽  
P. Gut ◽  
J. Sowiński ◽  
J. Nowak
Keyword(s):  
Adrenal Insufficiency ◽  
Primary Adrenal Insufficiency ◽  
Adrenal Hypoplasia Congenita ◽  
Adrenal Hypoplasia

Glycerol kinase deficiency and adrenal hypoplasia congenita

1997 ◽  
Vol 20 (4) ◽  
pp. 609-609 ◽  
Author(s):  
R. A. Clarke ◽  
N. Howard ◽  
W. J. O'Sullivan ◽  
L. G. Svirklys ◽  
A. G. Mackinlay
Keyword(s):  
Glycerol Kinase ◽  
Adrenal Hypoplasia Congenita ◽  
Glycerol Kinase Deficiency ◽  
Adrenal Hypoplasia
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