Work

SAT-478 Diagnosis of Nonclassical Congenital Adrenal Hyperplasia in Female With Irregular Menses and Variable 17-Hydroxyprogeseterone Levels

Year: 2024

Type: article

Abstract: S.M. Zainelabdin: None. D.J. Selen: None. Background: Hyperandrogenism in adult women may be attributed to many different diagnoses. Nonclassical congenital adrenal hyperplasia (NCAH) accounts for around 4% of women presenting with androgen excess. Screening for NCAH with an early morning basal 17-hydroxyprogesterone (17-OHP) level during the follicular phase is recommended in patients presenting with hyperandrogenism. However, oligomenorrhea and amenorrhea are common in this patient population. For this group, a random 17-OHP level is recommended for screening. Here we present a patient with elevated 17-OHP levels during ambulatory screening which normalized on repeat blood work and required a cosyntropin stimulation test for NCAH diagnosis.Clinical Case: A 31-year-old woman with a history of worsening hirsutism including thick hair on the face, nipples, and abdomen requiring laser hair removal, adult acne, and difficulty losing weight was found to have elevated random basal 17-OHP of 697.92 ng/dL (Reference Range [RR] <=206.00 ng/dL) and a normal total testosterone 45 ng/dL (RR 14 - 76 ng/dL) on PCP screening. The patient was referred to Endocrinology. Further history revealed the patient had long-standing irregular menses, and had a Paragard Copper IUD in place at the time of the endocrine visit. Repeat fasting morning labs were obtained on day three of patient’s menses and found consistently elevated 17-OHP 707 (RR < 206 ng/dL), elevated DHEA 522.0 ug/dL (RR 98.8 - 340 ug/dL), elevated total testosterone 61.0 ng/dL (RR 9.0 - 55.0 ng/dL), and indeterminate AM cortisol of 13.7 ug/dL. The patient underwent a cosyntropin stimulation test with 0.25 mg of cosyntropin. Results showed a baseline plasma cortisol of 10.9 ug/dL and 17-OHP of 166.63 ug/dL and a 60-minute plasma cortisol of 23.5 ug/dL and 17-OHP 3,341.85 ug/dL. Elevated 17-OHP after cosyntropin administration confirmed diagnosis of NCAH. Notably, the patient’s screening 17-OHP of 697.92 ng/d and her follicular 17-OHP of 707, varied greatly with her cosyntropin stim test baseline 17-OHP of 166.63 ug/dL. Patients with oligomenorrhea or amenorrhea may be at risk for underdiagnosis of NCAH by screening with random 17-OHP and may require repeat bloodwork to guide diagnosis. As the patient was interested in pregnancy in the future, she was referred to Endocrine Genetics for further evaluation and genetic testing. She had reliable contraception with the IUD and was not interested in steroids or a birth control pill, so she was started on spironolactone to help manage her symptoms of hyperandrogenism, hirsutism, and acne. Conclusion: We present a patient with variable 17-OHP levels who met the diagnostic criteria of NCAH by cosyntropin stimulation testing. Patients with hyperandrogenism and oligomenorrhea and a high suspicion for NCAH may warrant multiple 17-OHP levels before diagnosis, especially if there is no known follicular phase in the setting of anovulatory cycles. Saturday, June 1, 2024

Source: Journal of the Endocrine Society

DOI: 10.1210/jendso/bvae163.2425

Authors: S M Zainelabdin, D J Selen

Institution: Brown University

Language: English

Topic: Sexual Differentiation and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,418