| name | endo-hirsutism-assess-urinary-corticoid-metabolites |
| description | Assess urinary corticoid metabolites by mass spectrometry to exclude apparent cortisone reductase deficiency. Indicated when a woman presents with moderate/severe hirsutism or mild hirsutism accompanied by clinical evidence of a hyperandrogenic endocrine disorder such as menstrual disturbance, progression despite therapy, or signs of virilization. |
Assess urinary corticoid metabolites to rule out cortisone reductase deficiency
STEP 1 — Gather Information
Collect detailed hirsutism assessment (Ferriman–Gallwey score), menstrual history, signs of virilization (e.g., oligomenorrhea, clitoromegaly, rapid progression), and baseline androgen labs (serum total and free testosterone, 17‑hydroxyprogesterone, DHEAS). If total and free testosterone are normal but there is clinical evidence of hyperandrogenism, proceed to urinary corticoid metabolite testing.
STEP 2 — Rule In / Rule Out
Is the urinary corticoid metabolite profile showing an elevated tetrahydrocortisone/tetrahydrocortisol ratio consistent with cortisone reductase deficiency?
- Yes → Rule in cortisone reductase deficiency.
- No → Rule out cortisone reductase deficiency.
STEP 3 — Classify or Stratify
If ruled in, classify as biochemical cortisone reductase deficiency (await genetic confirmation).
If ruled out, stratify remaining hyperandrogenic etiologies (e.g., PCOS, nonclassic congenital adrenal hyperplasia, androgen‑secreting tumor) based on clinical clues and further testing.
STEP 4 — Decide
If cortisone reductase deficiency is confirmed, initiate low‑dose glucocorticoid therapy (e.g., dexamethasone 0.25 mg nightly) and arrange genetic counseling; if ruled out, continue androgen excess workup per guideline (e.g., ACTH stimulation, adrenal imaging) and consider condition‑specific management.
Clinical Guardrails / Mimics / Pitfalls
Do not diagnose cortisone reductase deficiency on metabolite results alone; confirm with CYP11B1 genotyping. Avoid glucocorticoid empiric therapy without biochemical proof due to risk of iatrogenic Cushingoid changes. Ensure first‑morning, uncontaminated urine collection; stress or illness can alter corticoid metabolites. Do not mistake this defect for 11‑oxygenated androgen excess, which requires different testing.
Concrete Clinical Example
A 28‑year‑old woman with Ferriman–Gallwey score 18, oligomenorrhea, normal total and free testosterone, and mild hirsutism that worsened despite 6 months of oral contraceptive therapy undergoes urinary corticoid metabolite analysis, revealing an elevated tetrahydrocortisone/tetrahydrocortisol ratio. Genetic testing confirms heterozygous CYP11B1 mutation; she is started on dexamethasone 0.25 mg nightly with clinical improvement in hirsutism over 3 months.
Source: Evaluation and Treatment of Hirsutism in Premenopausal Women: An Endocrine Society Clinical Practice Guideline, Endocrine Society, 2018, DOI:10.1210/jc.2018-00241
