scholarly journals Birth after TESE-ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutation

2011 ◽  
Vol 26 (3) ◽  
pp. 724-728 ◽  
Author(s):  
C. Frapsauce ◽  
C. Ravel ◽  
M. Legendre ◽  
M. Sibony ◽  
J. Mandelbaum ◽  
...  
Keyword(s):  
Hypogonadotropic Hypogonadism ◽  
Congenital Adrenal Hypoplasia ◽  
Adrenal Hypoplasia

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

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.

Identification of a novel mutation of NR0B1 in a patient with X-linked adrenal hypoplasia and symptomatic treatment

2017 ◽  
Vol 30 (12) ◽  
Author(s):  
Jing Yang ◽  
Yuncheng Lv ◽  
Ye Zhou ◽  
Xinhua Xiao
Keyword(s):  
Frameshift Mutation ◽  
Novel Mutation ◽  
Hypogonadotropic Hypogonadism ◽  
Serum Testosterone ◽  
Symptomatic Treatment ◽  
Serum Testosterone Level ◽  
Coding Region ◽  
Rapid Improvement ◽  
Congenital Adrenal Hypoplasia ◽  
Adrenal Hypoplasia

AbstractBackground:X-linked congenital adrenal hypoplasia (X-linked AHC) is characterized by acute onset of primary adrenal insufficiency in infancy or early childhood and hypogonadotropic hypogonadism (HH) at puberty. Mutations inMethods:The entire coding region of theResults:DNA sequencing revealed a missense mutation (c.383-384 insA) in exon 1, which resulted in a novel frameshift mutation, thereby resulting in a truncated protein (p.Leu129 Pro fs*137). The therapeutic trail with an observation period of 20 weeks showed an effective improvement in symptoms of hypogonadism with human chorionic gonadotropin (HCG) administration, including a rapid improvement of serum testosterone level, descending of testicles as well as enlargement of testicles and growth of penis.Conclusions:Our study identified a novel frameshift mutation of the

Congenital adrenal hypoplasia and hypogonadotropic hypogonadism: Phenotypic variability of the DAX-1 gene R267P mutation

2012 ◽  
Vol 59 (2) ◽  
pp. 140-142
Author(s):  
Myriam Sánchez-Pacheco ◽  
Oscar Moreno-Pérez ◽  
Ruth Sánchez-Ortiga ◽  
Antonio Picó ◽  
Francisca Moreno
Keyword(s):  
Phenotypic Variability ◽  
Hypogonadotropic Hypogonadism ◽  
Congenital Adrenal Hypoplasia ◽  
Adrenal Hypoplasia

Failure to induce puberty in a man with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism by pulsatile administration of low-dose gonadotropin-releasing hormone

1987 ◽  
Vol 114 (1) ◽  
pp. 153-160 ◽  
Author(s):  
Kiyoshi Kikuchi ◽  
Masayuki Kaji ◽  
Toru Momoi ◽  
Haruki Mikawa ◽  
Yosuke Shigematsu ◽  
...  
Keyword(s):  
Hypogonadotropic Hypogonadism ◽  
Serum Testosterone ◽  
Repeated Administration ◽  
Serum Testosterone Level ◽  
Endogenous Opioid ◽  
Pituitary Dysfunction ◽  
Congenital Adrenal Hypoplasia ◽  
Serum Lh ◽  
Pulsatile Administration ◽  
Adrenal Hypoplasia

Abstract. To elucidate the mechanism of hypogonadotropic hypogonadism in a patient with X-linked congenital adrenal hypoplasia, we studied the effects on serum LH and FSH of repeated iv administration of GnRH (400 μg, over 2 h, once a day, for 14 consecutive days), pulsatile sc administration of GnRH (5 μg every 90 min during days 1 ~ 56, 10 μg every 90 min during days 57 ~ 91) and an iv bolus injection of 10 mg of naloxone. The repeated administration of GnRH restored the hyporesponsiveness of serum FSH and increased serum testosterone level from < 1.0 to 1.7 nmol/l, but the impaired LH response to the standard GnRH test was not improved. The pulsatile administration of GnRH for 91 consecutive days did not induce a clinical or a biochemical change of puberty. Serum testosterone remained undetectable < 1.0 nmol/l, the hyporesponsiveness of serum LH was not improved, but basal FSH level was significantly increased and the impaired FSH response to the standard GnRH test was slightly improved. Naloxone had no effect on serum LH or FSH before or during the pulsatile administration. We conclude that hypogonadotropic hypogonadism in our patient is due to the pituitary dysfunction and that the endogenous opioid peptides may not play a role in the mechanism of inhibited gonadotropin secretions.

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 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).

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