Редок случај на конгенитална адренална хиперплазија асоцирана со хиперкортизолемија
Date Issued
2022
Author(s)
Marija Ilijovska
Biljana Todorova
Goce Hristov
Toso Plaseski
Abstract
Introduction: Congenital adrenal hyperplasia (CAH) describes a group of autosomal recessive disorders
characterized by enzyme deficiency in the steroidogenic pathways most commonly due to 21 hydroxylase deficiency.CAH is generally associated with decreased or absent production of cortisol, increased ACTH secretion and
excessive production of adrenal androgens and progesterone, including 17OH progesterone. We report a rare case
of CAH associated with hypercortisolism. Case report:A 40 years old woman was referred to the Endocrinology unit
for management of infertility presented with oligomenorrhea,acne and hirsutism. She had previously been labelled
as a case of PCOSy and had been placed on various types of medications such as hormonal therapy and spironolactone.The first laboratory findings showed elevated levels of cortisol, adrenal androgens and testosterone. 17OH
progesterone was also increased. After the diagnosis of CAH multiple laboratory tests were made and the plasma
cortisol appeared to be repeatedly elevated. Dexamethasone test showed partial supression. 24hour urine cortisol
test, abdominal CT and MRI of the pituitary glandwere also performedand showed no pathological findings. The
diagnosis of CAH due to 21 hydroxylase deficiency was confirmed with genetic studies that showed mutation in
CYP21A2(I172N). The genotype was homozygous. Conclusion:As the pathophysiology is basically a defect in the
biosynthesis of cortisol, one may not consider CAH in patients with hypercortisolism. Althought this is an extremely rare case, more attention should be paid to this condition in hyperandrogenic womeneven if cortisol levels are
elevаted. Key words: CAH, hyperandrogenism, PCOSy, hypercortisolemia
characterized by enzyme deficiency in the steroidogenic pathways most commonly due to 21 hydroxylase deficiency.CAH is generally associated with decreased or absent production of cortisol, increased ACTH secretion and
excessive production of adrenal androgens and progesterone, including 17OH progesterone. We report a rare case
of CAH associated with hypercortisolism. Case report:A 40 years old woman was referred to the Endocrinology unit
for management of infertility presented with oligomenorrhea,acne and hirsutism. She had previously been labelled
as a case of PCOSy and had been placed on various types of medications such as hormonal therapy and spironolactone.The first laboratory findings showed elevated levels of cortisol, adrenal androgens and testosterone. 17OH
progesterone was also increased. After the diagnosis of CAH multiple laboratory tests were made and the plasma
cortisol appeared to be repeatedly elevated. Dexamethasone test showed partial supression. 24hour urine cortisol
test, abdominal CT and MRI of the pituitary glandwere also performedand showed no pathological findings. The
diagnosis of CAH due to 21 hydroxylase deficiency was confirmed with genetic studies that showed mutation in
CYP21A2(I172N). The genotype was homozygous. Conclusion:As the pathophysiology is basically a defect in the
biosynthesis of cortisol, one may not consider CAH in patients with hypercortisolism. Althought this is an extremely rare case, more attention should be paid to this condition in hyperandrogenic womeneven if cortisol levels are
elevаted. Key words: CAH, hyperandrogenism, PCOSy, hypercortisolemia
File(s)![Thumbnail Image]()
Loading...
Name
CamScanner 02-17-2023 21.53.pdf
Size
478.6 KB
Format
Adobe PDF
Checksum
(MD5):e4130ce3339a351c24525e8f44f285b4