Late‐Onset Congenital Adrenal Hyperplasia

Panitsa-Faflia, C; Batrinos, Menelaos L.

doi:10.1111/j.1749-6632.1997.tb52146.x

Cited by 4 publications

(8 citation statements)

References 5 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…2,3 Nonclassic CAH is characterized by noticeable body changes at any time from early childhood through early adulthood but is not immediately life threatening. 4,5 Girls born with nonclassic CAH have normal genitals. Boys also appear normal.…”

Section: Discussionmentioning

confidence: 99%

“…Because symptoms begin later in life, nonclassic CAH is sometimes called late-onset CAH, adult-onset CAH or the attenuated form of CAH. 4,5 Signs and symptoms typically seen in adolescent girls and women include irregular menstruation, increased facial hair, excessive body hair, deepening voice, and infertility. 4,5 Functional analysis of mutations associated with nonclassic CAH demonstrates a 50 to 80% loss of 21-hydroxylase enzymatic function.…”

Section: Discussionmentioning

confidence: 99%

“…4,5 Signs and symptoms typically seen in adolescent girls and women include irregular menstruation, increased facial hair, excessive body hair, deepening voice, and infertility. 4,5 Functional analysis of mutations associated with nonclassic CAH demonstrates a 50 to 80% loss of 21-hydroxylase enzymatic function. 4,5 Patients with nonclassic CAH are mostly compound heterozygotes bearing different CYP21A2 mutations on each allele.…”

Section: Discussionmentioning

confidence: 99%

“…4,5 Functional analysis of mutations associated with nonclassic CAH demonstrates a 50 to 80% loss of 21-hydroxylase enzymatic function. 4,5 Patients with nonclassic CAH are mostly compound heterozygotes bearing different CYP21A2 mutations on each allele. The missense mutation, V281L, accounts for at least one of the CYP21A2 alleles in most patients with nonclassic CAH, 4,5 as demonstrated in our patient.…”

Section: Discussionmentioning

confidence: 99%

See 3 more Smart Citations

Steatohepatitis Secondary to Long-Term Glucocorticoid Treatment for Congenital Adrenal Hyperplasia: A Potential Diagnostic Pitfall

2013

View full text Add to dashboard Cite

A 24-year-old woman with congenital adrenal hyperplasia (CAH) was referred for evaluation of elevated liver enzyme activities over the preceding 6 months. The patient was diagnosed with CAH at the age 12 when she presented with irregular menses and hirsutism. Since then, she had been on dexamethasone to maintain a normal menstrual cycle and prevent hirsutism and acne. She had no history of chronic liver disease and drank alcohol socially. An extensive workup for other treatable causes of liver disease was unrevealing. Therefore, a liver biopsy was performed, which revealed extensive ballooned degenerative hepatocytes containing Mallory-Denk hyalines. The ballooned hepatocytes were located predominantly in centrilobular areas and without any accompanying steatosis. Even though the histopathologic features are most compatible with alcoholic and/or nonalcoholic steatohepatitis, it was not supported by the patient's medical history and clinical presentation. The patient had a normal body mass index and only occasional alcohol use. Based on the biopsy finding and clinical presentation, we postulated that the abnormal liver enzyme and pathological features seen on the liver biopsy were secondary to CAH and long-term use of glucocorticoid. A few studies have shown that patients with CAH often develop metabolic abnormalities and insulin resistance, particularly women treated with glucocorticoid for several years. To our knowledge, this is the first report describing steatohepatitis secondary to CAH and prolonged glucocorticoid treatment. It is important to be aware that steatohepatitis can develop in these patients due to long-term glucocorticoid use and potentially lead to progressive liver damage. Furthermore, in patients with CAH who develop abnormal liver enzyme activities a liver biopsy is warranted to assess for steatohepatitis and any associated fibrosis. If indeed fibrosis is already present, a consultation with the endocrinologist should be undertaken in an effort to lower the dose of the glucocorticoids as much as possible while still controlling the symptoms of the disease.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Steatohepatitis Secondary to Long-Term Glucocorticoid Treatment for Congenital Adrenal Hyperplasia: A Potential Diagnostic Pitfall

2013

View full text Add to dashboard Cite

show abstract

“…Growth acceleration and final short stature are also clinical problems. Almost all cases of nonclassical 21-OHD are found in puberty or adulthood because of virilization or family history [1][2][3][5][6][7][8][9][10].…”

mentioning

confidence: 99%

Clinical Course of Patients with Nonclassical 21-hydroxylase Deficiency (21-OHD) Diagnosed in Infancy and Childhood

et al. 2008

View full text Add to dashboard Cite

Abstract. We report four cases of nonclassical 21-hydroxylase deficiency (21-OHD) diagnosed in neonate or early childhood. The four patients comprised a 6-year, 5-month-old male (case 1); a 3-year, 10-month-old female (case 2); a 13-year, 11-month-old female (case 3) and a 17-year, 1-month-old male (case 4). Cases 3 and 4 were siblings. None had any signs of virilization or salt wasting at birth. 21-OHD was diagnosed using ACTH loading test and other adrenal steroid evaluations. Mutations of the CYP21 gene were detected in all patients. Three patients (cases 1, 3 and 4) had positive results in neonatal mass screening. Cases 1 and 2 showed no apparent signs of virilizaton and were observed without conventional treatment. In cases 3 and 4, because of increased growth velocity and accelerated bone maturation, hydrocortisone administration was initiated from their late infantile period. In spite of hydrocortisone treatment, in case 4, the final height of 159.7 cm was less than his predicted final height. Besides he revealed adrenal insufficiency at the age of 9 years and 2 months old caused by viral infection. Hydrocortisone supplementation therapy may cause adrenal insufficiency in nonclassical patients due to suppression of the hypothalamus-pituitary-adrenal axis. The clinical courses in these cases were various, and it was difficult to predict the appearance of any symptoms of virilization. Careful observation is necessary.

show abstract

Non-classic congenital adrenal hyperplasia. Clinical experience versus clinical guidelines

Shah

Backeljauw

2011

Endocrinol Studies

View full text Add to dashboard Cite

The ability to diagnose non-classic congenital adrenal hyperplasia (NC-CAH) has improved drastically over the past decade due to standardization of laboratory assays and refinement of molecular studies. However, the optimal clinical management for this patient population is still evolving. Thus, we describe the clinical presentation and diagnostic approach of children with non-classic congenital adrenal hyperplasia (NC-CAH). A retrospective chart review was done to identify all subjects diagnosed with late-onset CAH or NC-CAH at a single institution during the last decade. Eighteen subjects were identified. Fourteen were diagnosed as NC-CAH 21-hydroxylase deficiency and four with NC-CAH 3-beta hydroxysteroid dehydrogenase (3βHSD) deficiency. The approach to evaluation was different according to the provider. Re-evaluation of steroid hormone concentrations using updated diagnostic criteria revealed one patient had ACTH-stimulated hormone concentrations consistent with classic CAH (non-salting wasting variant) and four patients initially thought to have NC-CAH 3βHSD had steroid hormone concentrations consistent with premature adrenarche. Age and clinical presentation did not differentiate subjects with NC-CAH from those with premature adrenarche. Skeletal age was ≥ to 2 standard deviations advanced only in those patients with NC-CAH. Variations in the diagnostic approach to evaluate children for NC-CAH exist. We provide a practical algorithmic recommendation, incorporating the most recent diagnostic guidelines, to aid the clinician in the evaluation of this disorder

show abstract

Late‐Onset Congenital Adrenal Hyperplasia

Cited by 4 publications

References 5 publications

Steatohepatitis Secondary to Long-Term Glucocorticoid Treatment for Congenital Adrenal Hyperplasia: A Potential Diagnostic Pitfall

Steatohepatitis Secondary to Long-Term Glucocorticoid Treatment for Congenital Adrenal Hyperplasia: A Potential Diagnostic Pitfall

Clinical Course of Patients with Nonclassical 21-hydroxylase Deficiency (21-OHD) Diagnosed in Infancy and Childhood

Non-classic congenital adrenal hyperplasia. Clinical experience versus clinical guidelines

Contact Info

Product

Resources

About