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Essay question from busyspr - congenital adrenal hyperplasia

Essay question from busyspr - congenital adrenal hyperplasia Posted by dr neelangini G.
hi, we will discuss this question from question bank, the answer is not uploaded, Dr. Paul please guide, I have tried to put few points

A 20 year old woman presents with secondary amenorrhoea and hirsutism. You have made a presumptive diagnosis of late onset congenital adrenal hyperplasia. How would you confirm this diagnosis and treat the patient?

• Basal, morning serum 17-hydroxyprogesterone value (drawn in the early follicular phase) greater than 200 ng/dL (6 nmol/L) strongly suggests the diagnosis.
• The diagnosis is confirmed by an exaggerated serum 17-hydroxyprogesterone response to high dose ACTH (250 mcg). Stimulated values 60 minutes after stimulation are typically ≥1500 ng/dL, range between 1000 and 10,000 ng/dl
• Treatment depend upon the desire of fertility, need for contraception
• For hirsutism cosmetic treatment in the form of bleaching, waxing . LASER treatment for excess facial hair & local application of Vaniqua is advised
• oral contraceptives over glucocorticoids as first-line therapy for menstrual cycle management
• with anovulatory cycles who desire fertility, glucocorticoids as initial therapy for ovulation induction.
• In women who do not ovulate with glucocorticoid therapy alone, clomiphene citrate will help.
Posted by PAUL A.
Place yourself in the examiner\'s shoes and award marks, one per point. Where will you give the 20 marks?

How do you get blood in the follicular phase in a woman with amenorrhoea?

How was the presumptive diagnosis made? Was it on history, history and examination, history, examination and some investigations or just after reading the referral letter? Why did you assume that history / examination were not necessary? If you made a presumptive diagnosis on history and examination, will you just do the one / two tests or would you do tests to exclude other possible causes?
Posted by dr neelangini G.
Thank you Dr. Paul for your guidance. I rewritten the answer – please give your comments .

This woman presents with amenorrhea,so to rule out pregnancy is essential. As hirsutism is distressing condition , sympathetic approach towards patient is necessary. Impact on quality of life to be assessed. Detailed history should be taken including period of amenorrhea, previous menstrual history. History of onset of excess body hair& its distribution. Associated symptoms like acne, oily skin, change of voice , H/O weight gain should be asked . Her obstetric history , last child birth & if she is lactating , will be associated with amenorrhea. H/O medications like danazol, testosterone, progestogens , as these drugs are associated with hirsutism & sometimes amenorrhoea. Use of minoxidil, phenytoin, cyclosporine A, diazoxide is also to be asked as these may cause hirsutism/hypertrichosis. Family history of hypothyroidism, congenital adrenal hyperplasia should be obtained.
On examination her BMI should be calculated. Distribution of body hair & its severity will be assessed on Ferriman Gallaway score. Presence of acanthosis nigricans may be associated with PCOS. Central obesity, moon face, thinning of skin, abdominal striae, easy bruising suggests cushing’s syndrome. Per abdominal examination to rule out abdominopelvic mass . Examination of external genitalia to see clitoromegaly. The differential diagnosis will be PCOS, congenital adrernal hyperplasia, cushings syndrome, adrenal or ovarian tumour.
Initial approach towards patient will be ultrasound scanning to see polycystic ovaries or any other adenexal mass. Measurement of serum testosterone to see hyperandrogenemia . Measuring Thyroid hormones to rule out hypothyroidism. Serum FSH , LH to see any possibility of premature menopause or reverasal of ratio of FSH & LH may be associated with PCOS. Serum prolactin measurement for hyperprolactinemia . Serum cortisol & Dexamethasone suppression test will diagnose cushings syndrome. Progesterone challenge test to check for withdrawal bleeding as in most cases cause of amenorrhoea is anovulation & progesterone withdrawal bleeding will assess for oestrogen priming of endometrium. Basal , morning 17 hydoxy progesterone if more than 200ng/dl suggests congenital adrenal hyperplasia.The diagnosis will be confirmed by ACTH stimulation test by giving 250 mcg of ACTH & measuring response after 60 minutes & exaggerated response of 17 OHP , more than 1500ng/dl confirms the diagnosis.
Treatment of congenital adrenal hyperplasia – late onset , depend upon impact of quality of life,patient’s wishes for fertility & contraception. Need for regular menstruation & treatment of amenorrhoea will be initially by oral contraceptive pills. Third generation progestogen containing pills are having less androgenic effect , so good in this patient. Presence of thrombophilia before starting pill should be checked, if family history of VTE. Preparations containing Cryproterone acetate- antiandrogen& oestrogen ,like Diane are helpful. Patient should be counseled to take long term treatment for 6-9 months. She should be also advised to have regular cosmetic care in the form of bleaching, waxing for her facial & body hair. Application of Vaniqua is helpful but associated with skin erythema. If the patient is having anovulation & desire fertility , glucocorticoids should be considered. In women who do not ovulate with glucocorticoids , clomiphene citrate will be helpful. As congenital adrenal hyperplasia is autosomal recessive condition, preconceptional counseling & preimplantation genetic diagnosis should be advised if possibility of pregnancy. Written information should be given to the patient & contact of support group given.