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Congenital Adrenal Hyperplasia in Adults

Congenital Adrenal Hyperplasia in Adults. OBJECTIVES. To review the treatment of classical CAH in adult endocrinology practice To review the diagnosis and treatment of non-classical CAH in adult endocrinology. A bit of Background. 1865 Autopsy on G Marzo found:

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Congenital Adrenal Hyperplasia in Adults

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  1. Congenital Adrenal Hyperplasia in Adults

  2. OBJECTIVES • To review the treatment of classical CAH in adult endocrinology practice • To review the diagnosis and treatment of non-classical CAH in adult endocrinology

  3. A bit of Background 1865 Autopsy on G Marzo found: • 6 inch penis with hypospadias • No testes • Normal vagina, uterus, F tubes and ovaries • Large adrenal glands was female at birth, then judged to be male by 4 years of age

  4. Historical case continued • Functioned normally in society as a man • Suffered episodic vomiting throughout his life • Died ~40 yrs old after an episode of vomiting

  5. Some SJHC cases CASE #1 • 36 yr old woman seen in Dec 2013, cook • Diagnosed with CAH at 6 months of age when genital abN found • No crises • Had been followed by DrKillinger

  6. CASE #1 • Recalls being on steroid at age 10 • No reconstructive surgery • Menses onset after steroid • Noted extra facial hair in teens

  7. CASE #1 • Stopped her med in teens due to social stress • No menses • Started steroid in early 20’smenses

  8. CASE #1 At present: • On Prednisone 5/2.5 [metformin, T4, NSAID, clonazepam prn] • menses Q3 weeks • Facial laser in past • No acne • Not planning any conceptions

  9. CASE #1 Physical Exam: • BP 122/81 • Weight 117.8 kg; BMI 46 • A few darker facial hairs (had shaved) • No striae/bruises/full face

  10. CASE #1 • LABS: …………….stay tuned.

  11. CASE #2 • 25 yr old woman, nurse • Onset of menses age 13, always irregular [once/year] • Took BCP at age 16, and then had regular monthly “periods”

  12. CASE #2 • Age 18 noted hair falling out from headstopped the BCP as feared it was the cause • Menses only 1-2/year • Then noted some darker facial and abdominal hair

  13. CASE # 2 Physical Exam Weight 59.1 kg BP 142/85 A few terminal hairs on face Notably thin hair on head (not in male pattern)

  14. CASE #2 • Lab tests….stay tuned….

  15. Congenital Adrenal Hyperplasia (CAH) • Most common form is 21-hydroxylase deficiency • Incidence of classical 21OHD: 1:15000 newbornstherefore carrier incidence is 1/60 • Autosomal recessive • Rare in African Americans • More common in Yupic (Eskimo), Mediterranean peoples • Most common cause of genital ambiguity

  16. Traditionally 3 categories: • Salt wasting (classical) CAH • Simple virilizing CAH • Non-classic CAH

  17. Classical CAH in pediatrics: • Salt wasting • Hypotension (both aldosterone and cortisol lack) • Androgen excess

  18. Classial CAH: Pedsvs Adults PEDS JOB(s) ONE: • Prevention of adrenal crisis • Ensuring growth and development

  19. Classical CAH ADULTS: a bit less fragile • Less prone to crises • Many stop their meds • Men may have few--if any--problems for years • Women may just learn to deal with the hyperandrogenism • “JOB ONE” will depend upon what the patient wants to achieve

  20. Classic CAH So: ADULT GOALS may include: • Prevent adrenal crisis (beware concurrent illnesses) • Restore fertility • Prevent development of adrenal/gonadal hyperplasia and neoplasia • Avoid steroid complications

  21. Classic CAH ADULTS: Good to know: Flurinef may no longer be neededWhy? Unknown but speculation: • ?High Na content in adult diets • ? Perhaps other adrenal pathways begin to function later in life

  22. Classic CAH Flurinef titration: • BP lying/standing • K concentration • Plasma renin

  23. Classic CAH • Optimal glucocorticoid regimen is unknown • Hydrocortisone 15-20 mg am/5-10 mg pmbut this may still allow for overnight ACTH risehyperandrogenism • Alternatives (but with longer ½ lives of course) are prednisone, dexamethasone

  24. Classic CAH Things to watch for in adulthood: • Chronic adrenal enlargementmay lead to myelolipomas

  25. Classical CAH • HT is more common in adults with CAH despite childhood hypotension • BMD may be lower but OP is uncommon

  26. Classic CAH • Increased risk for IGT, obesity and dyslipidemia

  27. Classic CAH Good to know pertinent to male health: • Testicular atrophy and infertility due to LH/FSH suppression • TARTs (testicular adrenal rest tumours)may be present in ~50% if use sensitive US infertility, pain

  28. Classic CAH: adrenal rests • Treatment: increased glucocorticoid replacement • Aim for normal testosterone level • Exclude cancer if persist • Surgical excision can restore LH function, but generally does not restore fertility • Yearly US and testicular exam

  29. Classic CAH: goals in Men Lab test Goal • Plasma Renin • 17-OHP • Testosterone • Androstenedione • LH/FSH • Sperm count • Normal as possible (but let rise if HT ensues) • Suppress if TARTS or infertile • Normal • Mildly elevated • Normal • Normal

  30. Classic CAH and women Consider that: • Androgen excess • Infertility • may require more steroid than just to prevent hypocortisolism

  31. [women can develop ovarian rests]

  32. Classic CAH and women • Don’t aim for total suppression of 17OHP and androgens (for fear of steroid excess) unless aim is assisting fertility

  33. Classic CAH: treatment goals in women Lab Test Goal • Plasma Renin • 17-OHP • Testosterone • Androstenedione • Progesterone • Normal as possible (allow rise if HT) • Mildly elevated (lower if severe hirsutism, infertile) • High normal • Mildly elevated • Moderately elevated (normalize for fertility)

  34. Classic CAH: good to know • Chronic androgen excess in women may result in PCOS picture therefore hyperandrogenism from ovaries may persist even with ACTH suppression by steroid

  35. Classic CAH Suboptimal fertility in women WHY? • High androgensoligoanovulation • High progesteroneunfavourable endometrial and cervical mucus • Endogenous/surgical vaginal difficulties • ~20% attempt a pregnancy

  36. However, a bit more encouraging: • 21/23 women with classic CAH due to 21OHD conceived and delivered with BID or TID steroid • Casteras et al. Clinical Endocrinology 2009; 70:833

  37. And.. • Pregnancy outcomes usually normal • 20% risk GDM • CS may be more common (keeping in mind the surgical reconstruction that may have been done) • Steroid doses unlikely to alter in pregnancy • Ratio of girls/boys: 3 times more likely to be female offspring? cause

  38. Classic CAH: Psychosocial health • QoL scores may be lower especially after surgical corrections, but truly variable outcomes • Not unexpectedly, women may have more anxiety about sexual contacts/body image

  39. Approach with caution Perhapswomen with Classic CAH have • More masculinized play behaviour • More likely to play outdoor sports • (here’s a truly dumb statistic): 14% with classic CAH had a spare time interest in motor cars. Friesen L. JCEM 2009; 94:3432-3439

  40. NON-CLASSIC CAH • Incidence: 1:1000 Study of 220 NC women 11% diagnosed < 10 yrs old (why? Premature pubarche) • 80% 10-40 years old (why? Hirsutism, oligomenorrhea, acne, infertility, alopencia, 1 amenorrhea) C. Moran Am J. Obstet.Gynecol. 183(6), 1468–1474 (2000).

  41. NC CAH:men • Asymptomatic • Discovered by screening in families

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