scholarly journals Clinical polymorphism of congenital X-linked adrenal hypoplasia

2009 ◽  
Vol 55 (2) ◽  
pp. 15-18
Author(s):  
E M Orlova ◽  
M A Kareva
Keyword(s):  
Adrenal Insufficiency ◽  
Autosomal Recessive ◽  
Intrauterine Growth Retardation ◽  
Hypogonadotropic Hypogonadism ◽  
Primary Adrenal Insufficiency ◽  
Intrauterine Growth ◽  
Congenital Adrenal Hypoplasia ◽  
Genital Structure ◽  
Adrenal Hypoplasia ◽  
Autosomal Recessive Manner

Congenital adrenal hypoplasia is a rare clinical variant of primary adrenal insufficiency. Two forms of this disease are known, one of which is inherited in an autosomal recessive manner (including IMAGe syndrome - a combination of adrenal hypoplasia with intrauterine growth retardation, metaphysical dysplasia and abnormal genital structure, OMIM 300290), and the other has X-linked nature of inheritance (DAX-1 gene defect). X-linked adrenal hypoplasia is relatively more common and studied in more detail.Congenital X-linked adrenal hypoplasia is manifested by a combination of primary adrenal insufficiency and hypogonadotropic hypogonadism and is caused by defects in the DAX-1 gene (measurement-sensitive sex reversal, adrenal hypoplasia congenital, critical region on the X chromosome, gene-1).

Frequency of hypoglycemia in children with adrenal insufficiency

1986 ◽  
Vol 113 (4_Suppl) ◽  
pp. S275-S278 ◽  
Author(s):  
E. Artavia-Loria ◽  
J.L. Chaussain ◽  
P.F. Bougnères ◽  
J.C. Job
Keyword(s):  
Plasma Concentration ◽  
Adrenal Insufficiency ◽  
Plasma Cortisol ◽  
Neonatal Period ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Primary Adrenal Insufficiency ◽  
Congenital Adrenal Hypoplasia ◽  
Basal Plasma ◽  
Adrenal Hypoplasia

Abstract The frequency of hypoglycemia in 165 children with primary adrenal insufficiency, 118 of whom had Congenital Adrenal Hyperplasia and 47 Addison's Disease, was 18 %. Half of the hypoglycemic episodes occurred in the neonatal period. Hypoglycemia was isolated in 13 children, revealing the disease in 4 newborns with Congenital Adrenal Hypoplasia and in a boy with 11 B Hydroxylase deficiency. Basal plasma cortisol levels were significantly lower in those of subjects who experienced hypoglycemia ( 47.1 ± 28.6 ng/ml vs. 106.0 ± 86.6 ng/ml, p< 0.001). A significant correlation ( p < 0.001) was found between the plasma concentration of glucose and cortisol at time of hypoglycemia.

scholarly journals Clinical and molecular genetic characteristic of 10 cases with congenital adrenal hypoplasia caused by DAX-1 gene defects

2010 ◽  
Vol 56 (2) ◽  
pp. 3-9 ◽  
Author(s):  
A N Tiul'pakov ◽  
N Iu Kalinchenko
Keyword(s):  
Genetic Analysis ◽  
Adrenal Insufficiency ◽  
Hypogonadotropic Hypogonadism ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Genetic Characteristic ◽  
Congenital Adrenal Hypoplasia ◽  
Gene Defects ◽  
Adrenal Hypoplasia ◽  
The Moment

X-linked congenital adrenal hypoplasia (CAH) is one of the most widespread forms of congenital hypocortisolism in boys. The disease is caused by defects in the NR0B1 gene that encodes for DAX1 protein. CAH manifests itself largely as adrenal insufficiency in young children and hypogonadotropic hypogonadism developing by the pubertal period. This paper describes 10 patients presenting with X-linked form of congenital adrenal hypoplasia. In six of them adrenal insufficiency was apparent during the first month of life and in the remaining four at a later time (up to the age of 13 years). Hypogonadism was diagnosed in all the patients (n=7) who reached the age of 15 by the moment of the last examination. Diagnosis of CAH was confirmed by molecular genetic analysis in all the ten cases. Nine different mutations in the NR0B1 gene were identified.

scholarly journals Adrenal hypoplasia congenita: a rare cause of primary adrenal insufficiency and hypogonadotropic hypogonadism

2015 ◽  
Vol 7 (3) ◽  
Author(s):  
Marta Loureiro ◽  
Filipa Reis ◽  
Brígida Robalo ◽  
Carla Pereira ◽  
Lurdes Sampaio
Keyword(s):  
Adrenal Insufficiency ◽  
Replacement Therapy ◽  
Hypogonadotropic Hypogonadism ◽  
Delayed Puberty ◽  
Adrenal Crisis ◽  
Testosterone Replacement Therapy ◽  
Primary Adrenal Insufficiency ◽  
Adrenal Hypoplasia Congenita ◽  
Adrenal Hypoplasia ◽  
Low Levels

Primary adrenal insufficiency is defined by the impaired synthesis of adrenocortical hormones due to an intrinsic disease of the adrenal cortex. Determining its etiology is crucial to allow adequate long-term management and genetic counseling. We report the case of a male adolescent that presented in the neonatal period with adrenal crisis and received replacement therapy for primary adrenal insufficiency. During follow-up, adrenal hypoplasia congenita (AHC) was suspected given his persistently raised adrenocorticotropic hormone levels, with markedly low 17-OH progesterone and androstenedione levels. DNA sequence analysis revealed a mutation in <em>NR0B1</em> gene (c.1292delG), confirming the diagnosis. Delayed puberty and persistent low levels of gonadotropins led to testosterone replacement therapy. X-linked AHC is a rare cause of primary adrenal insufficiency and hypogonadotropic hypogonadism, related to mutations in <em>NR0B1</em> gene. Despite its rarity, AHC should be considered in patients who present with primary adrenal failure, low levels of 17-OH progesterone and hypogonadotropic hypogonadism.

scholarly journals IMAGe, a New Clinical Association of Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies

1999 ◽  
Vol 84 (12) ◽  
pp. 4335-4340 ◽  
Author(s):  
Eric Vilain ◽  
Martine Le Merrer ◽  
Claudine Lecointre ◽  
Francois Desangles ◽  
Mark A. Kay ◽  
...  
Keyword(s):  
Growth Retardation ◽  
Intrauterine Growth Retardation ◽  
Hypogonadotropic Hypogonadism ◽  
Glycerol Kinase ◽  
Metaphyseal Dysplasia ◽  
Intrauterine Growth ◽  
Pituitary Development ◽  
Adrenal Hypoplasia Congenita ◽  
Adrenal Hypoplasia ◽  
Epiphyseal Dysplasia

We report three boys with adrenal hypoplasia congenita (AHC) and additional findings that represent a new syndrome, IMAGe: Intrauterine growth retardation, Metaphyseal dysplasia, AHC, and Genital anomalies. Each presented shortly after birth with growth retardation and severe adrenal insufficiency. Each of the three patients had mild dysmorphic features, bilateral cryptorchidism, a small penis, and hypogonadotropic hypogonadism. Skeletal surveys revealed metaphyseal dysplasia in all three and epiphyseal dysplasia in two. The patients had documented or suspected hypercalciuria and/or hypercalcemia, resulting in nephrocalcinosis in one and in prenatal liver and spleen calcifications in another. AHC presents most often either as an isolated abnormality, caused by mutations in the DAX1 gene, or as part of an Xp21 contiguous gene syndrome, caused by a deletion of the Duchenne muscular dystrophy, glycerol kinase, and DAX1 genes. All three patients with the IMAGe association had normal creatine kinase levels and no evidence of glycerol kinase deficiency. Sequence analysis of DNA from these patients revealed no mutation in the DAX1- or steroidogenic factor-1-coding sequences, nor was a deletion of DAX1 detected. Identification of the molecular basis of the IMAGe association will give new insight into the pathogenesis of this syndromic relationship involving bone, adrenal cortical, and pituitary development.

Congenital Adrenal Hypoplasia with Hypogonadotropic Hypogonadism

2009 ◽  
pp. 401-401
Author(s):  
Nils Peters ◽  
Martin Dichgans ◽  
Sankar Surendran ◽  
Josep M. Argilés ◽  
Francisco J. López-Soriano ◽  
...  
Keyword(s):  
Hypogonadotropic Hypogonadism ◽  
Congenital Adrenal Hypoplasia ◽  
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

scholarly journals Delayed-onset adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by a novel mutation in DAX1

2019 ◽  
Vol 48 (2) ◽  
pp. 030006051988215
Author(s):  
Siyue Liu ◽  
Libin Yan ◽  
Xinrong Zhou ◽  
Chen Chen ◽  
Daowen Wang ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Hypogonadotropic Hypogonadism ◽  
Molecular Testing ◽  
Delayed Onset ◽  
Adrenal Hypoplasia Congenita ◽  
Congenital Adrenal Hypoplasia ◽  
Translation Start ◽  
Adrenal Hypoplasia ◽  
Relevant Family History ◽  
Mild Clinical Phenotype

In this study, we described a male who presented with delayed-onset adrenal hypoplasia congenita (AHC) and mild hypogonadotropic hypogonadism (HHG) without a relevant family history. A novel mutation in the DAX1 (dosage-sensitive sex reversal, congenital adrenal hypoplasia critical region on the X chromosome, gene 1) gene was shown to cause X-linked AHC and HHG. Genetic analysis revealed a novel nonsense mutation, c.154G > T (p.Glu52Term), in the DAX1 gene. Molecular testing demonstrated that the milder phenotype caused by this mutation was due to expression of a partially functional, amino-truncated DAX1 protein generated from an alternate in-frame translation start site (methionine at codon 83). This unusual case revealed a potential mechanism for a novel mutation that resulted in an unusual delayed-onset mild clinical phenotype. It expands the spectrum of adrenal hypoplasia congenita and hypogonadotropic hypogonadism.

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