Identification of a novel mutation of NR0B1 in a patient with X-linked adrenal hypoplasia and symptomatic treatment
-
Jing Yang
,
Yuncheng Lv
Abstract
Background:
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 in NR0B1, the gene located on Xp21.3 and encoding an orphan nuclear receptor named DAX1, are responsible for this disease.
Methods:
The entire coding region of the NR0B1 gene of a 14-year-old X-linked AHC proband as well as his family members was sequenced. Clinical and endocrine evaluations with symptomatic treatment results were recorded.
Results:
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 NR0B1 gene in a proband with X-linked AHC/HH and further expanded the number of NR0B1 mutations reported in the literature. Moreover, the symptomatic treatment observation provided referential evidence in the treatment of X-linked AHC associated hypogonadism and bilateral inguinal cryptorchidism.
Acknowledgments
The authors thank Dr. Tao Cai, MD, PhD (senior staff scientist of National Institute of Dental and Craniofacial Research, NIH) for his careful review of this manuscript.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: This work was partially supported by a grant from the National Natural Science Foundation of China (Funder Id: 10.13039/501100001809) (81100560 to J. Y.).
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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©2017 Walter de Gruyter GmbH, Berlin/Boston
Articles in the same Issue
- Frontmatter
- Mini Review
- Marine-Lenhart syndrome in two adolescents, including one with thyroid cancer: a case series and review of the literature
- Original Articles
- The role of enterovirus infections in type 1 diabetes in Tunisia
- Serum progranulin levels in relation to insulin resistance in childhood obesity
- Relation between circulating oxidized-LDL and metabolic syndrome in children with obesity: the role of hypertriglyceridemic waist phenotype
- Etiologies of short stature in a pediatric endocrine clinic in Southern Thailand
- Thyroid evaluation of children and adolescents with Williams syndrome in Zhejiang Province
- The use of a radiolucent template to improve bone age X-ray quality (BASIC study)
- How often are clinicians performing genital exams in children with disorders of sex development?
- Efficacy and safety of percutaneous administration of dihydrotestosterone in children of different genetic backgrounds with micropenis
- Higher phthalate concentrations are associated with precocious puberty in normal weight Thai girls
- Identification of a novel mutation of NR0B1 in a patient with X-linked adrenal hypoplasia and symptomatic treatment
- Mutation analysis of the phenylalanine hydroxylase gene and prenatal diagnosis of phenylketonuria in Shaanxi, China
- Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism?
- Case Reports
- Diabetic ketoacidosis, hyperuricemia and encephalopathy intractable to regular-dose insulin
- A novel DAX-1 (NR0B1) mutation in a boy with X-linked adrenal hypoplasia congenita
- High aldosterone and cortisol levels in salt wasting congenital adrenal hyperplasia: a clinical conundrum
- A newborn with combined pituitary hormone deficiency developing shock and sludge
- Acknowledgment
Articles in the same Issue
- Frontmatter
- Mini Review
- Marine-Lenhart syndrome in two adolescents, including one with thyroid cancer: a case series and review of the literature
- Original Articles
- The role of enterovirus infections in type 1 diabetes in Tunisia
- Serum progranulin levels in relation to insulin resistance in childhood obesity
- Relation between circulating oxidized-LDL and metabolic syndrome in children with obesity: the role of hypertriglyceridemic waist phenotype
- Etiologies of short stature in a pediatric endocrine clinic in Southern Thailand
- Thyroid evaluation of children and adolescents with Williams syndrome in Zhejiang Province
- The use of a radiolucent template to improve bone age X-ray quality (BASIC study)
- How often are clinicians performing genital exams in children with disorders of sex development?
- Efficacy and safety of percutaneous administration of dihydrotestosterone in children of different genetic backgrounds with micropenis
- Higher phthalate concentrations are associated with precocious puberty in normal weight Thai girls
- Identification of a novel mutation of NR0B1 in a patient with X-linked adrenal hypoplasia and symptomatic treatment
- Mutation analysis of the phenylalanine hydroxylase gene and prenatal diagnosis of phenylketonuria in Shaanxi, China
- Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism?
- Case Reports
- Diabetic ketoacidosis, hyperuricemia and encephalopathy intractable to regular-dose insulin
- A novel DAX-1 (NR0B1) mutation in a boy with X-linked adrenal hypoplasia congenita
- High aldosterone and cortisol levels in salt wasting congenital adrenal hyperplasia: a clinical conundrum
- A newborn with combined pituitary hormone deficiency developing shock and sludge
- Acknowledgment
