Vaginal bleeding and a giant ovarian cyst in an infant with 21-hydroxylase deficiency
-
Nursel Muratoğlu Şahin
,
Semra Çetinkaya
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.
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.
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.
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.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
References
1. New MI, Wilson RC. Steroid disorder in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess. Proc Natl Acad Sci USA 1999;96:12790–7.10.1073/pnas.96.22.12790Search in Google Scholar PubMed PubMed Central
2. Bhangoo A, Buyuk E, Oktay K, Ten S. Phenotypic features of 46, XX females with StAR protein mutations. Pediatr Endocrinol Rev 2007;5:633–41.Search in Google Scholar
3. Topaloglu AK, Vade A, Zeller WP. Congenital adrenal hyperplasia and bilateral ovarian cysts in a neonate. Clin Pediatr (Phila) 1997;36:719–20.10.1177/000992289703601210Search in Google Scholar PubMed
4. Uli N, Chin, D, David R, Geneiser N, Roche K, et al. Menstrual bleeding in a female infant with congenital adrenal hyperplasia: Altered maturation of the hypothalamic-pituitary-ovarian axis. J Clin Endocrinol Metab 1997;82:3298–302.10.1210/jcem.82.10.4277Search in Google Scholar PubMed
5. Maesaka H, Suwa S, Tachibana K, Katsumata N. Prolonged activation of hypothalamo-pituitary-ovarian axis during early infancy in female patients with salt-losing 21-hydroxylase deficiency. Pediatr Res 1985;19:1258–62.10.1203/00006450-198512000-00007Search in Google Scholar PubMed
6. Anderson E, Lee MT, Lee GY. Cystogenesis of the ovarian antral follicle of the rat: ultrastructural changes and hormonal profile following the administration of dehydroepiandrosterone. Anat Rec 1992;234:359–82.10.1002/ar.1092340307Search in Google Scholar PubMed
7. Weil S, Vendola K, Zhou J, Bondy CA. Androgen and folliclestimulating hormone interactions in primate ovarian follicle development. J Clin Endocrinol Metab 1999;84:2951–6.10.1210/jcem.84.8.5929Search in Google Scholar PubMed
8. Shankar R, Mahajan JK, Khanna S, Rao KL. Bilateral ovarian cysts in a neonate with salt-wasting congenital adrenal hyperplasia. J Pediatr Surg 2010;45:19–21.10.1016/j.jpedsurg.2010.01.029Search in Google Scholar PubMed
9. Güran T, Yeşil G, Güran Ö, Cesur S, Bosnalı O, et al. A giant ovarian cyst in a neonate with classical 21-hydroxylase deficiency with very high testosterone levels demonstrating a high-dose hook effect. J Clin Res Pediatr Endocrinol 2012;4: 151–3.10.4274/Jcrpe.685Search in Google Scholar PubMed PubMed Central
©2018 Walter de Gruyter GmbH, Berlin/Boston
Articles in the same Issue
- Frontmatter
- Review
- The role of corticosteroid-binding globulin in the evaluation of adrenal insufficiency
- Original Articles
- Association of sodium intake with insulin resistance in Korean children and adolescents: the Korea National Health and Nutrition Examination Survey 2010
- Decrease in serum chemerin through aerobic exercise plus dieting and its association with mitigation of cardio-metabolic risk in obese female adolescents
- Ultrasonographic assessment of pubertal breast development in obese children: compliance with the clinic
- Associations of leptin, insulin and lipids with retinal microvasculature in children and adolescents
- Association of cord blood ghrelin, leptin and insulin concentrations in term newborns with anthropometric parameters at birth
- Management of thyrotoxicosis in children and adolescents: 35 years’ experience in 304 patients
- Clinical and cytogenetic features of 516 patients with suspected Turner syndrome – a single-center experience
- Response to growth hormone treatment in very young patients with growth hormone deficiencies and mini-puberty
- Reference centile curves for wrist circumference for Indian children aged 3–18 years
- Comparison between two inhibin B ELISA assays in 46,XY testicular disorders of sex development (DSD) with normal testosterone secretion
- Genetic mutations associated with neonatal diabetes mellitus in Omani patients
- Four novel mutations of the BCKDHA, BCKDHB and DBT genes in Iranian patients with maple syrup urine disease
- Improved medical-alert ID ownership and utilization in youth with congenital adrenal hyperplasia following a parent educational intervention
- Letter to the Editor
- Identification of five mutations in a patient with galactose metabolic disorders
- Case Reports
- Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor
- Vaginal bleeding and a giant ovarian cyst in an infant with 21-hydroxylase deficiency
- Insulin-mediated pseudoacromegaly: a report of two pediatric patients
- Novel compound heterozygous variants in the LHCGR gene identified in a subject with Leydig cell hypoplasia type 1
Articles in the same Issue
- Frontmatter
- Review
- The role of corticosteroid-binding globulin in the evaluation of adrenal insufficiency
- Original Articles
- Association of sodium intake with insulin resistance in Korean children and adolescents: the Korea National Health and Nutrition Examination Survey 2010
- Decrease in serum chemerin through aerobic exercise plus dieting and its association with mitigation of cardio-metabolic risk in obese female adolescents
- Ultrasonographic assessment of pubertal breast development in obese children: compliance with the clinic
- Associations of leptin, insulin and lipids with retinal microvasculature in children and adolescents
- Association of cord blood ghrelin, leptin and insulin concentrations in term newborns with anthropometric parameters at birth
- Management of thyrotoxicosis in children and adolescents: 35 years’ experience in 304 patients
- Clinical and cytogenetic features of 516 patients with suspected Turner syndrome – a single-center experience
- Response to growth hormone treatment in very young patients with growth hormone deficiencies and mini-puberty
- Reference centile curves for wrist circumference for Indian children aged 3–18 years
- Comparison between two inhibin B ELISA assays in 46,XY testicular disorders of sex development (DSD) with normal testosterone secretion
- Genetic mutations associated with neonatal diabetes mellitus in Omani patients
- Four novel mutations of the BCKDHA, BCKDHB and DBT genes in Iranian patients with maple syrup urine disease
- Improved medical-alert ID ownership and utilization in youth with congenital adrenal hyperplasia following a parent educational intervention
- Letter to the Editor
- Identification of five mutations in a patient with galactose metabolic disorders
- Case Reports
- Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor
- Vaginal bleeding and a giant ovarian cyst in an infant with 21-hydroxylase deficiency
- Insulin-mediated pseudoacromegaly: a report of two pediatric patients
- Novel compound heterozygous variants in the LHCGR gene identified in a subject with Leydig cell hypoplasia type 1
