Therapeutic challenges in a patient with the simple virilizing (SV) form of congenital adrenal hyperplasia (CAH) due to the P30L/I172N genotype
-
Maja Tankoska
,
Michel Naydenov
Abstract
Background
Steroid 21-hydroxylase deficiency is an autosomal recessive disorder, present in 90–95% of all cases with congenital adrenal hyperplasia (CAH). The classical simple virilizing (SV) form of the disease causes virilization of the external genitalia in newborn females and pseudo-precocious puberty in both sexes, due to reactive androgen overproduction.
Case presentation
We describe a 3.5-year-old girl presenting with pubarche, P2 according to Tanner, advanced bone age of 6 years and 10 months, and high serum levels of 17-hydroxyprogesterone (17-OHP). Molecular analysis of the nine most common pseudogene-derived CYP21A2 point mutations was performed in the patient and her family members using the polymerase chain reaction/amplification-created restriction site (PCR/ACRS) method. We detected the P30L/I172N genotype in the patient. She had inherited a mild P30L mutation from her mother and a severe I172N mutation from her father.
Conclusions
Although the CAH phenotype is determined by the allele that produces most of the enzyme activity and the mild non-classical (NC) phenotype should be expected, the mild P30L known to be more virilizing probably induced the classical SV phenotype in our patient. A continuous regimen of hydrocortisone at a recommended dose failed to decrease the 17-OHP sufficiently. Careful tapering of the dose did not help, and her pubic hair advanced to P3 according to Tanner. Individually tailored treatment is warranted in this patient.
Acknowledgments
We would like to thank the family of the patient for their cooperation in providing valuable information about their family history and participation in the study.
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.
Conflict of interest statement: The authors stated that they have no conflicts of interest regarding the publication of this article.
Ethical statement: Written informed consent was obtained from the patient for the publication of this case report.
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©2019 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Reviews
- Using height-corrected definition of metabolic syndrome in children and adolescents
- Association between early antibiotic exposure and risk of childhood weight gain and obesity: a systematic review and meta-analysis
- Original Articles
- Carbonated beverage consumption is associated with lower C-peptide in adolescents
- Low levels of cardiorespiratory fitness and abdominal resistance are associated with metabolic risk in schoolchildren
- Effect of metformin on clinical and biochemical hyperandrogenism in adolescent girls with type 1 diabetes
- Obesity-related thyroiditis in childhood: relationship with insulin resistance
- An isolated Xp deletion is linked to autoimmune diseases in Turner syndrome
- Non-invasive assessment of aortic stiffness and blood pressure in young Turner syndrome patients
- High frequency of non-classical congenital adrenal hyperplasia form among children with persistently elevated levels of 17-hydroxyprogesterone after newborn screening
- The “combined team” transition clinic model in endocrinology results in high adherence rates and patient satisfaction
- Utilizing health information technology to improve the recognition and management of life-threatening adrenal crisis in the pediatric emergency department: medical alert identification in the 21st century
- Testicular adrenal rest tumors in patients with congenital adrenal hyperplasia: 6 years of follow-up
- Letter to the Editor
- Growth failure in infancy and early adiposity rebound
- Short Communication
- Clinical utility of stimulation tests in infants with suspected adrenal insufficiency (AI)
- Case Reports
- Two siblings with Gaucher type 3c: different clinical presentations
- Acquired partial lipodystrophy with metabolic disease in children following hematopoietic stem cell transplantation: a report of two cases and a review of the literature
- Therapeutic challenges in a patient with the simple virilizing (SV) form of congenital adrenal hyperplasia (CAH) due to the P30L/I172N genotype
Artikel in diesem Heft
- Frontmatter
- Reviews
- Using height-corrected definition of metabolic syndrome in children and adolescents
- Association between early antibiotic exposure and risk of childhood weight gain and obesity: a systematic review and meta-analysis
- Original Articles
- Carbonated beverage consumption is associated with lower C-peptide in adolescents
- Low levels of cardiorespiratory fitness and abdominal resistance are associated with metabolic risk in schoolchildren
- Effect of metformin on clinical and biochemical hyperandrogenism in adolescent girls with type 1 diabetes
- Obesity-related thyroiditis in childhood: relationship with insulin resistance
- An isolated Xp deletion is linked to autoimmune diseases in Turner syndrome
- Non-invasive assessment of aortic stiffness and blood pressure in young Turner syndrome patients
- High frequency of non-classical congenital adrenal hyperplasia form among children with persistently elevated levels of 17-hydroxyprogesterone after newborn screening
- The “combined team” transition clinic model in endocrinology results in high adherence rates and patient satisfaction
- Utilizing health information technology to improve the recognition and management of life-threatening adrenal crisis in the pediatric emergency department: medical alert identification in the 21st century
- Testicular adrenal rest tumors in patients with congenital adrenal hyperplasia: 6 years of follow-up
- Letter to the Editor
- Growth failure in infancy and early adiposity rebound
- Short Communication
- Clinical utility of stimulation tests in infants with suspected adrenal insufficiency (AI)
- Case Reports
- Two siblings with Gaucher type 3c: different clinical presentations
- Acquired partial lipodystrophy with metabolic disease in children following hematopoietic stem cell transplantation: a report of two cases and a review of the literature
- Therapeutic challenges in a patient with the simple virilizing (SV) form of congenital adrenal hyperplasia (CAH) due to the P30L/I172N genotype
