Unusual phenotype of congenital adrenal hyperplasia (CAH) with a novel mutation of the CYP21A2 gene
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Manish Raisingani
Abstract
Gonadotropin independent sexual precocity (SP) may be due to congenital adrenal hyperplasia (CAH), and its timing usually depends on the type of mutation in the CYP21A2 gene. Compound heterozygotes are common and express phenotypes of varying severity. The objective of this case report was to investigate the hormonal pattern and unusual genetic profile in a 7-year-old boy who presented with pubic hair, acne, an enlarged phallus, slightly increased testicular volume and advanced bone age. Clinical, hormonal and genetic studies were undertaken in the patient as well as his parents. We found elevated serum 17-hydroxyprogesterone (17-OHP) and androstenedione that were suppressed with dexamethasone, and elevated testosterone that actually rose after giving dexamethasone, indicating activity of the hypothalamic-pituitary-gonadal (HPG) axis. An initial search for common mutations was negative, but a more detailed genetic analysis of the CYP21A2 gene revealed two mutations including R341W, a non-classical mutation inherited from his mother, and g.823G>A, a novel not previously reported consensus donor splice site mutation inherited from his father, which is predicted to be salt wasting. However, the child had a normal plasma renin activity. He was effectively treated with low-dose dexamethasone and a GnRH agonist. His father was an unaffected carrier, but his mother had evidence of mild non-classical CAH. In a male child presenting with gonadotropin independent SP it is important to investigate adrenal function with respect to the androgen profile, and to carry out appropriate genetic studies.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
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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©2016 by De Gruyter
Artikel in diesem Heft
- Frontmatter
- Original Articles
- Translation and psychometric properties of the Persian version of self-management of type 1 diabetes for adolescents
- Generic and disease-specific quality of life in adolescents with type 1 diabetes: comparison to age-matched healthy peers
- Relationship between HOMA-IR and serum vitamin D in Chinese children and adolescents
- Low 25-hydroxyvitamin D level is not an independent risk factor for hepatosteatosis in obese children
- Pediatric thyroid nodules: ultrasonographic characteristics and inter-observer variability in prediction of malignancy
- Frequency of thyroid status monitoring in the first year of life and predictors for more frequent monitoring in infants with congenital hypothyroidism
- Biochemical, radiological, and genetic characterization of congenital hypothyroidism in Abu Dhabi, United Arab Emirates
- High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism
- Children with severe Osteogenesis imperfecta and short stature present on average with normal IGF-I and IGFBP-3 levels
- Association between physical activity and bone in children with Prader-Willi syndrome
- CNDP1 genotype and renal survival in pediatric nephropathies
- 17-Hydroxyprogesterone responses to human chorionic gonadotropin are not associated with serum anti-Mullerian hormone levels among adolescent girls with polycystic ovary syndrome
- Near-final height in 82 Chinese patients with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency: a single-center study from China
- Case Reports
- Sertoli cell only syndrome with ambiguous genitalia
- Childhood parathyroid adenoma: a rare but important cause of nephrolithiasis
- A unique case of growth hormone and human chorionic gonadotropin treatment in a 45,X male with Y: autosome translocation and literature review
- Propionic acidemia: a Turkish case report of a successful pregnancy, labor and lactation
- Unusual phenotype of congenital adrenal hyperplasia (CAH) with a novel mutation of the CYP21A2 gene
- Central diabetes insipidus as a very late relapse limited to the pituitary stalk in Langerhans cell histiocytosis
Artikel in diesem Heft
- Frontmatter
- Original Articles
- Translation and psychometric properties of the Persian version of self-management of type 1 diabetes for adolescents
- Generic and disease-specific quality of life in adolescents with type 1 diabetes: comparison to age-matched healthy peers
- Relationship between HOMA-IR and serum vitamin D in Chinese children and adolescents
- Low 25-hydroxyvitamin D level is not an independent risk factor for hepatosteatosis in obese children
- Pediatric thyroid nodules: ultrasonographic characteristics and inter-observer variability in prediction of malignancy
- Frequency of thyroid status monitoring in the first year of life and predictors for more frequent monitoring in infants with congenital hypothyroidism
- Biochemical, radiological, and genetic characterization of congenital hypothyroidism in Abu Dhabi, United Arab Emirates
- High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism
- Children with severe Osteogenesis imperfecta and short stature present on average with normal IGF-I and IGFBP-3 levels
- Association between physical activity and bone in children with Prader-Willi syndrome
- CNDP1 genotype and renal survival in pediatric nephropathies
- 17-Hydroxyprogesterone responses to human chorionic gonadotropin are not associated with serum anti-Mullerian hormone levels among adolescent girls with polycystic ovary syndrome
- Near-final height in 82 Chinese patients with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency: a single-center study from China
- Case Reports
- Sertoli cell only syndrome with ambiguous genitalia
- Childhood parathyroid adenoma: a rare but important cause of nephrolithiasis
- A unique case of growth hormone and human chorionic gonadotropin treatment in a 45,X male with Y: autosome translocation and literature review
- Propionic acidemia: a Turkish case report of a successful pregnancy, labor and lactation
- Unusual phenotype of congenital adrenal hyperplasia (CAH) with a novel mutation of the CYP21A2 gene
- Central diabetes insipidus as a very late relapse limited to the pituitary stalk in Langerhans cell histiocytosis
