Premature ovarian insufficiency — structured oral station (12 minutes)

Opening prompt — "What is your diagnosis, and how do you confirm it?"

Model response — ESHRE 2024 definition: ^[1][4]

• "This is premature ovarian insufficiency — loss of ovarian activity before age 40, suggested by her amenorrhoea and an FSH of 38 IU/L."
• "I confirm it by excluding pregnancy first (done), then repeating the FSH at least 4 weeks later — the ESHRE 2024 definition requires two FSH levels over 25 IU/L at least 4 weeks apart. I would never diagnose POI on a single test, because it fluctuates."
• "AMH is not part of the diagnosis."

Probe 1 — "What workup would you do to find the cause?"

• "A karyotype to look for Turner (45,X mosaicism) and other X-chromosome abnormalities — the most common chromosomal cause. An FMR1 premutation screen for fragile X-associated POI. And — the must-not-miss — 21-hydroxylase antibodies to screen for coexisting Addison disease, because an undiagnosed adrenal insufficiency can cause a fatal adrenal crisis."
• "I would add a DEXA for bone density at diagnosis — low BMD is common in POI."^[1][4]

Probe 2 — "She asks if she will need to take hormones forever. What do you say?"

• "Not forever — but until the age her peers reach natural menopause, around 51. This is physiologic replacement: her ovaries are not making the hormones her body needs at her age, and replacing them protects her bones, her heart and her blood vessels."
• "The risks you may have read about — the WHI study — were in women in their sixties started years past menopause. For you, in your thirties, the benefits far outweigh the risks, and withholding the hormones would be the bigger error."^[2]

Probe 3 — "She desperately wants children. What can you offer her?"

• "I have to be honest with you. Spontaneous pregnancy is possible — POI can fluctuate — but it is uncommon. The most realistic option is donor-oocyte IVF, which has good success rates."
• "I cannot offer you egg-freezing now — by the time we have this diagnosis, the ovarian reserve is already too low. If you were facing chemotherapy, we would talk about freezing eggs before treatment, not after."
• "I will refer you to the fertility team to talk this through properly."^[1][2]

Probe 4 — "The karyotype comes back 45,X/46,XX mosaicism. What does this change?"

• "This is Turner mosaicism — the most common chromosomal cause of POI. I would follow the 2024 international Turner guideline: arrange cardiac surveillance (bicuspid aortic valve, coarctation, aortic dissection risk — echocardiogram and cardiac MRI), renal imaging, and audiology. Growth hormone is not relevant at her age, but the comorbidity surveillance is lifelong."
• "Her HRT to age 51 stands, and the fertility counselling stands."^[3]

Probe 5 — "She becomes tearful and says she feels 'broken'. What do you do?"

This is a scored communication domain — demonstrate it out loud: ^[1][2]

• Move to her eye level, use her name, acknowledge the grief: "You are not broken. This is a hard diagnosis — the loss of fertility, the sense of your body changing early — and it is completely reasonable to grieve that. I am not going to pretend it is simple. But there is a clear plan: hormones to protect you until the usual age, a fertility team to talk through your options, and support for as long as you need it."
• Offer psychology referral and a patient organisation (the Daisy Network), and a named contact between visits.

Probe 6 — "Two months later she presents with fatigue, hyperpigmentation and postural dizziness. What is your concern?"

• "This is evolving Addison disease — a medical emergency. Autoimmune POI is associated with autoimmune polyendocrine syndromes, and this presentation in her context is an adrenal crisis until proven otherwise. I would give IV hydrocortisone and fluids, and call endocrinology urgently. This is exactly why we screen 21-hydroxylase antibodies at diagnosis."^[1]