CME INDIA Case Presentation by Dr B. Harish Dalra, MRCP, Endo UK, MRCP, Medicine. FRCP, MNAMS, Internal Medicine, Post graduate Diploma in Diabetology and Endo, UK. Dalra’s Health Care, Mysore, India.

CME INDIA Case Study:

How you proceed with these complains?

  • 28 yrs. old lady was referred for abnormal lab results by a Gynaecologist whom she was under follow up as she was not able to conceive after 5yrs of marriage.
  • She has regular periods with intermittent spotting. No obvious change in her weight neither weight gain or loss, No hirsutism, No Osmotic symptoms. Sedentary lifestyle. Appetite good. Bowels habits normal. Patient was due of IUI (Intrauterine insemination) procedure but due to abnormal Hormonal values she was referred.

General Examination

  • BMI – 18, Husbands – Semen analysis showed Azoospermia.
  • No Family h/o similar problems.
  • Pt attained menarche at the age of 15yrs.
  • No thyromegaly other sys normal.
  • No Hirsutism.

What could be the diagnosis?

Initial Hormonal test done are:

  • Low cortisol (fasting) – 3.26 (5-23).
  • Lowish AMH 0.35 (0.17- 7.37).
  • WBC karyotyping -Normal.
  • Androstenedione level elevated 691(75-205).
  • Corticosterone – normal 1175 (53-1560).
  • Deoxy cortisol DOC – elevated   457.45 (20-158).
  • LH 5.41 (1.9-12.5).
  • FSH 13.45 (2.5-10.2).
  • Prolactin Normal.
  • 17 HP 74.28 (15-70), DHEA/ DHEAS – Normal.
  • Estrodiol/ Testosterone – showed Normal.

(*done on 2nd day of cycle and was random after food*): Low Cortisol level.

Case Report

Case Report

CME INDIA Discussion

Dr Noni G Singha, Dibrugarh:

Any USG Abdomen report from above finding PCOS to be ruled out although menstrual history is normal.

Dr Harish Dalra, Mysore:


Dr Noni G Singha, Dibrugarh:

Needs TVS to rule out PCOS.

Also, to be managed in the line of PCOS at this juncture. Only Low AMH is not explained still few pt. may have low AMH.

Dr B K Shukla, Bihar:

Is its mild form of CAH (mild mutation causing 21 hydroxylase deficiency).

D/d ovarian insufficiency.

Dr D P Khaitan, Gaya:

  • Lowish AMH with high levels of FSH indicate the ovaries are not well responding, reflecting poorer egg quality and diminished ovarian reserve.
  • Low cortisol, elevated Deoxy cortisol with increased Androstenedione (adrenal androgens) all point some involvement with Adrenal hormone synthesis. Does this point towards? 11 Beta hydroxylase deficiency – Congenital adrenal hyperplasia.
  • OR Just other enzyme deficiency concerned with Congenital adrenal syndrome.
  • WBC Karyotyping, being normal excludes the possibility genetic disorder like Fragile X syndrome
  • High androgen might be associated with Lowish AMH.
  • D/D Congenital adrenal syndrome with secondary diminished ovarian reserve? Not sure. Correction Congenital adrenal Hyperplasia with secondary diminished ovarian reserve?

Dr Harish Dalra, Mysore:

I agree I was also suspecting the same. How to proceed? As I told it was no fasting sample and taken around 11-12. USG normal, no hyperandrogenism, no hirsute, normal BMI. LH/ FSH ratio normal. 11 beta hydroxylase deficiency is rarer than 21 hydroxylase deficiency.

Dr D P Khaitan, Gaya:

To me a single blood test in the morning to look at adrenal steroids (17-hydroxyprogesterone, androstenedione and testosterone) would be suffice to make the diagnosis of CAH. An ACTH stimulation would be the final answer to establish the diagnosis with certainty.

Dr Harish Dalra, Mysore:

In view of random sample, I rpt the blood test again as few things were not fitting – though i was also thinking in terms of 11 beta hydroxylase deficiency and was a bit excited as it’s not that very common. so rpt blood test were in fasting on the 5th day of her cycle at 8.30am. These are the results and the ref ranges are also attached. kindly opine now.

Dr D P Khaitan, Gaya:

Newer set of investigations are mute to the diagnosis of CAH. So, we should always have the proper timing of hormonal sampling collection. One thing to know whether ACTH stimulation test was done or not. Please be specific.

Dr Harish Dalra, Mysore:

Exactly that’s the point for presenting this case.

  • As these tests are expensive so done at right time will save money, time and stress for both pt. and doctor. If in doubt don’t hesitate to repeat bloods, if I had not done would have done loads of test which was not necessary. No, I did not do it, was waiting for the repeat reports and once all was normal did not do it.
  • My working diagnosis was – NCCAH (Nonclassic Congenital Adrenal Hyperplasia) – likely 11 beta hydroxylase deficiency – for further evaluation.
  • In view of clinically and biochemically mismatch – as patient had Normal menarche, normal regular cycles, no Hirsutism and USG of abd was normal, and as patient had got the blood test done after breakfast at 11.00 am to 12.00pm, I, decided to work her up properly and to do the blood test on fasting state and on 5ht day of her cycle Repeat blood test was done. See…

Case Report

Case Report

  • Repeat blood tests were done and were normal, hence further evaluation with Post Synacten test for 17 Alpha progesterone level and subjecting patient to radiological investigations to look for adrenal hyperplasia / enlargement was not done. Patient was referred back to gynaecologist to go ahead with the proposed procedure of IUI.

Dr D P Khaitan, Gaya: Correct approach.

CME INDIA Learning Points

(By Dr Harish Dalra)

  1. Always think before you ask for any investigations and don’t do less or more, in either situation it leads to a lot of confusions and stress for both the patient and the doctor.
  2. If you think clinically and biochemically, they don’t correlate, then better to take a step back and then move forward, as done in this case where I had to get repeat test done.
  3. Investigations should be done at appropriate time and in appropriate manner, which was not done in this case, leading to a lot of anxiety for the pt and her husband.
  4. Waste of time and money for the patient to get blood test repeated.

CME INDIA Tail Piece

  • Non-classic congenital adrenal hyperplasia (NCCAH) is a less severe form of CAH.
  • Individuals with NCCAH may come to attention as a result of excess androgen production.
  • Early morning baseline 17-OHP values have been shown to be a good initial screening test for NCCAH.
  • Glucocorticoid therapy is currently only recommended for the symptomatic individual.
  • Genetic counselling for NCCAH patients is important, given the risk for having offspring with classic CAH. PMCID: PMC3638754


-NIHMSID: NIHMS461777 – PMID: 22186144

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