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Vaginal bleeding and a giant ovarian cyst in an infant with 21-hydroxylase deficiency.
- Source :
-
Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2018 Jan 26; Vol. 31 (2), pp. 229-233. - Publication Year :
- 2018
-
Abstract
- Background: Increased adrenal androgen hormones in congenital adrenal hyperplasia (CAH) can rarely cause giant ovarian cysts in the neonatal period. Although the exact mechanism of the development of ovarian cysts is unknown, it is thought that increased androgen levels stimulate folicle development by increasing follicle stimulating hormone (FSH) levels.<br />Case Presentation: A 16-day-old newborn with ambiguous genitalia was presented to our clinic. Laboratory test results were as follows: sodium: 126 mEq/L, potassium: 5.4 mEq/L, renin: 132 pg/mL, adrenocorticotropic hormone (ACTH): 207 pg/mL, cortisole: 7.8 μg/dL, basal 17OH progesterone: 21 ng/mL, androstenedione: 5.1 ng/mL, testosterone: 1188 ng/dL and dehydroepiandrosterone sulfate (DHEAS)>1500 μg/dL. Karyotype analysis resulted in 46,XX. A homozygous mutation of R356W was detected in the CYP21A2 gene. The classical severe form of salt wasting 21 hydroxylase deficiency was diagnosed and treatment was started with hydrocortisone and fludrocortisone. Good metabolic control was ensured by monthly visits but the baby presented with vaginal bleeding as soiling at 4 months. The cystic lesion which extended to the epigastric area from the pelvis in the midline abdomen, had a size of 90×80×60 mm and medially, thin ovarian parenchyma was detected in ultrasonography.<br />Conclusions: The findings in our patient suggest that a decline in adrenal androgens after glucocorticoid treatment resulted in an increase in gonadotropin levels and the giant cyst is developed by activation of gonadotropin cascade and increased gonadotropin receptors, instead of androgens.
- Subjects :
- 46, XX Disorders of Sex Development genetics
Adrenal Hyperplasia, Congenital genetics
Amino Acid Substitution
Anti-Inflammatory Agents adverse effects
Anti-Inflammatory Agents therapeutic use
Drug Therapy, Combination adverse effects
Female
Fludrocortisone adverse effects
Fludrocortisone therapeutic use
Gonadotropins therapeutic use
Homozygote
Humans
Hydrocortisone adverse effects
Hydrocortisone therapeutic use
Infant, Newborn
Mutation
Ovarian Cysts pathology
Ovarian Cysts physiopathology
Ovarian Cysts surgery
Ovary pathology
Ovary surgery
Steroid 21-Hydroxylase genetics
Treatment Outcome
Tumor Burden
Uterine Hemorrhage prevention & control
46, XX Disorders of Sex Development drug therapy
Adrenal Hyperplasia, Congenital drug therapy
Gonadotropins adverse effects
Ovarian Cysts chemically induced
Ovary drug effects
Uterine Hemorrhage etiology
Subjects
Details
- Language :
- English
- ISSN :
- 2191-0251
- Volume :
- 31
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Journal of pediatric endocrinology & metabolism : JPEM
- Publication Type :
- Report
- Accession number :
- 29252197
- Full Text :
- https://doi.org/10.1515/jpem-2017-0235