Positive fertility outcomes in a female with classic congenital adrenal hyperplasia following bilateral adrenalectomy
Open accessAbstract
BACKGROUND: Classic congenital adrenal hyperplasia (CAH) requires lifetime steroid replacement and supraphysiologic glucocorticoid dose is often required for adequate adrenal androgen suppression. Patients often suffer from long-term co-morbidities and female infertility is common. CASE PRESENTATION: We report the use of laparoscopic bilateral adrenalectomy as a treatment for a 21 year old female with classic simple virilizing CAH and infertility. She presented as an adolescent with increasing weight gain, amenorrhea and elevated adrenal androgens despite the use of dexamethasone (250 mcg given twice daily), and fludrocortisone (150 mcg daily). An anti-androgen (flutamide 250 mg given twice daily) and a combined oral contraceptive pill were added to her regimen and prevented progressive virilization, but she eventually desired fertility. A bilateral laparoscopic adrenalectomy was performed at age 21. The right adrenal gland weighed 41.8 grams and the left gland 45.5 grams. There were no complications during the surgery. Since the surgery, she has had a total of three pregnancies, resulting in 3 healthy full-term infants. Follow-up 7 years later at age 27 revealed overall excellent health with a BMI of 25.1 kg/m(2), no evidence of adrenal rest tissue based on hormonal testing, above average quality-of-life based on 36-item short-form health survey and she has not experienced an adrenal crisis. CONCLUSIONS: This case highlights the use of bilateral adrenalectomy as a treatment option for female infertility in a patient with classic CAH and difficult-to-control hyperandrogenism secondary to adrenal nodular hyperplasia. Outstanding quality-of-life, disease control and fertility were achieved.
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Cell-free fetal DNA obtained from the mother's plasma as early as 5 weeks gestation has correctly identified fetal CAH status in 14 families.
“Cell-free fetal DNA obtained from the mother's plasma as early as 5 weeks gestation has correctly identified fetal CAH status in 14 families.85”
From Congenital adrenal hyperplasia (2017) · cites this paper as [85]
Case reports and smaller case series suggest adrenalectomy might be a therapeutic option to tackle excess androgen in CAH, reducing need for supraphysiological glucocorticoid replacement.
“Case reports and smaller case series suggest that adrenalectomy might be a therapeutic option to tackle the excess androgen feature of the disease, thereby reducing the need for supraphysiological glucocorticoid replacement therapy142–144.”
From Management challenges and therapeutic advances in congenital adrenal hyperplasia (2022) · cites this paper as [142]
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- Authors
- Dagalakis, U., Mallappa, A., Elman, M., Quezado, M., & Merke, D. P.
- Affiliations
- National Institutes of Health (US)
- Corresponding author
- Merke, Deborah P.
- Venue
- International Journal of Pediatric Endocrinology
- Published
- 2016-05-20
- Volume
- 2016
- Issue
- 1
- Pages
- 10-10
- ISSN
- 1687-9848 (ISSN-L)
- 1687-9856
- PMC
- PMC4873998
- OpenAlex
- W2380998947
- Cited by
- 10
- References
- 26
- Citations by year
- 2026: 1 · 2024: 2 · 2023: 1 · 2022: 3 · 2021: 1 · 2018: 1 · 2017: 1
- FWCI
- 0.35
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- International Journal of Pediatric Endocrinology (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
- Keywords
- classic congenital adrenal hyperplasia, female infertility, bilateral adrenalectomy, laparoscopic adrenalectomy, masculinization, hyperandrogenism, adrenal nodular hyperplasia, pregnancy outcomes, quality of life, adrenal crisis, steroid replacement therapy
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