Clinical Features of Congenital Adrenal Insufficiency Including Growth Patterns and Significance of ACTH Stimulation Test

Abstract

Congenital adrenal insufficiency is caused by specific genetic mutations. Early suspicion and definite diagnosis are crucial because the disease can precipitate a life-threatening hypovolemic shock without prompt treatment. This study was designed to understand the clinical manifestations including growth patterns and to find the usefulness of ACTH stimulation test. Sixteen patients with confirmed genotyping were subdivided into three groups according to the genetic study results: congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH, n=11), congenital lipoid adrenal hyperplasia (n=3) and X-linked adrenal hypoplasia congenita (n=2). Bone age advancement was prominent in patients with CAH especially after 60 months of chronologic age (n=6, 67%). They were diagnosed in older ages in group with bone age advancement (P<0.05). Comorbid conditions such as obesity, mental retardation, and central precocious puberty were also prominent in this group. In conclusion, this study showed the importance of understanding the clinical symptoms as well as genetic analysis for early diagnosis and management of congenital adrenal insufficiency. ACTH stimulation test played an important role to support the diagnosis and serum 17-hydroxyprogesterone levels were significantly elevated in all of the CAH patients. The test will be important for monitoring growth and puberty during follow up of patients with congenital adrenal insufficiency.

Rare combination of Turner syndrome and congenital adrenal hyperplasia with 21-hydroxylase deficiency: case report

“…Tieto poruchy môžu byť život ohrozujúce, ak sa včas neliečia. Pri neklasickej forme je u žien prítomný hirzutizmus s nadmernou tvorbou akné, menštruačné problémy, poruchy fertility u neliečených pacientiek, kým u mužov môže byť asymptomatickým ochorením s nejasným vplyvom na fertilitu [9]. Diagnostika CAH sa zakladá na klinickom zhodnotení, laboratórnych, zobrazovacích vyšetreniach a najmä genetickej analýze.…”

Assessment of the Frequency of Different Patterns of Clinical Presentation of Children Presenting With Congenital Adrenal Hyperplasia

“…3 The classical phenotypes are salt-wasting and simple genital virilizing forms. 5,6 In a study, conducted on 82 cases it was showed that consanguinity rate was high (71.2%), 95% had salt depletion and 52% had genital virilization. 7 One more study conducted on 28 cases showed that 60.7% cases had salt depletion and 39.3% had genital virilization.…”