Transitions For the CAH Patient
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1 Transitions For the CAH Patient Richard J. Auchus, M.D., Ph.D. Division of Metabolism, Endocrinology & Diabetes Department of Internal Medicine DSD Program University of Michigan
2 Disclosures Contracted Research Novartis Pharmaceuticals Strongbridge Biopharma Millendo Pharmaceuticals Neurocrine Biosciences Consultant Quest Diagnostics Corcept Therapeutics Janssen Pharmaceuticals Novartis Pharmaceuticals Diurnal LTD Spruce Biosciences Strongbridge Biopharma US Anti-Doping Agency
3 Giuseppe Marzo, 1865 Delle Piane et al 2015 Endocrinology 156:1210
4 Enzyme Defects Causing CAH Cholesterol StAR CYP11A1 Pregnenolone 3 HSD2 3 HSD2 Progesterone CYP21A2 POR 11-Deoxycorticosterone CYP17A1 CYP17A1 Corticosterone POR POR CYP11B1 17OH-Pregnenolone 17OH-Progesterone Cortisol CYP17A1 POR CYB5A Dehydroepiandrosterone (DHEA) HSD17B3, SRD5A2, CYP19A1 1X: Mineralocorticoid X: Androgen, Estrogen 1000X: Glucocorticoid 100X: Progestin (Luteal) 11-Deoxycortisol CYP21A2 POR CYP11B2 Androgens & Estrogens Aldosterone Adrenal
5 21-Hydroxylase Deficiency (21OHD) ACTH Cholesterol CYP11A1 StAR Pregnenolone CYP17A1 3 HSD2 Progesterone CYP17A1 CYP21A2 11-deoxycorticosterone CYP11B2 Renin/Ang-II CYP11B2 Corticosterone 18-hydroxycorticosterone CYP11B2 Aldosterone zona glomerulosa CYP17A1 Cyt b5 3 HSD2 17-hydroxypregnenolone 17-hydroxyprogesterone CYP17A1 Cyt b5 CYP21A2 11-deoxycortisol CYP11B1 Cortisol zona fasciculata Dehydroepiandrosterone 3 HSD2 Androstenedione AKR1C3 Testosterone zona reticularis SULT2A1 Dehydroepiandrosterone Sulfate periphery Androgen Excess Variable Glucocorticoid & Mineralocorticoid Deficiency
6 21OHD Rx Goals: Children Prevent Adrenal Crisis Prevent Salt Wasting Minimize Androgen Excess Prevent Early Puberty Maximize Height Treatment: Glucocorticoids, Salt, Mineralocorticoids, GnRHa, rhgh
7 CAH Treatment Goals: Adults Replace the Adrenal Insufficiency Daytime Glucocorticoid + Fludrocortisone Adrenal Crises Uncommon in Adults Control the Androgen Excess Often Requires Extra or Odd Dosing Prevent and Detect Neoplasms Preserve or Restore Fertility Mitigate Consequences of Chronic Rx Bones, CV Risk, Cognition, Etc Transition to Independence
8 What Do They Have in Common?
9 Cholesterol StAR CYP11A1 FDX1/FDXR Diverted Pathways Upstream & Downstream Pregnenolone CYP17A1 POR SULT2A1 (PAPSS2) Pregnenolone-S 17-Hydroxypregnenolone CYP17A1 POR+b 5 DHEA 3 HSD2 Androstenedione AKR1C3 Testosterone SULT2A1 (PAPSS2) DHEAS CYP11B1 FDX1/FDXR 11β-Hydroxyandrostenedione 11 HSD2 11-Ketoandrostenedione AKR1C3 11-Ketotestosterone
10 Case 1: History A 27 YO WF SVCAH relocated to your area Diagnosed in infancy due to a urogenital sinus and had reconstruction surgery Rx hydrocortisone and fludrocortisone as a child Switched to dexamethasone for convenience and gained 100 lbs, stopped all meds, had one adrenal crisis 5 yrs ago off meds Hydrocortisone 10 mg at HS and none in the AM PMH: tendon repair, rheumatoid arthritis Menses mostly regular now; no acne and mild hirsutism, plucks 2-3s/wk & lightly shaves 1/mo Sexually active without dyspareunia; getting married and plans to start an OCP (EE/Drospirenone) Planning children in 1-2 years
11 Case 1: ROS, PE, Questions ROS: Intermittent joint pains, tachycardia with standing BP 132/82 HR 85, Wt 203 lbs, Ht 5 4 Not Cushingoid, normal thyroid, no supraclavicular or dorsocervical fat pads; no facial plethora, trace terminal hairs on chin, no acne Heart, lungs, abdomen, neurologic unremarkable; no edema No skin thinning or bruising, 2 cm flesh-toned striae on abd and hips Tanner 5 pubic hair, mild clitoromegaly about 1.5 cm Questions: Is she simple virilizing or nonclassic CAH? What labs would you order and what results would you expect? Would you change her treatment and how? Why might she have intermittent tachycardia?
12 Case 1: Labs, Etc. Discussion: She is on an ineffective regimen but is not suffering significant problems from androgen excess. We need to figure out what kind of disease she has and get her on a consistent and normal regimen but not overtreat her now. Starting OCP will increase her SHBG and lower her free T, which is good. We need to prepare her for when she wishes to become pregnant with discussion of both more intensive treatment and genetic testing. Laboratory data (0900 draw, follicular phase): Potassium: 3.7 mmol/l; Aldosterone: 8.5 ng/dl ACTH 105 pg/ml; 17-Hydroxyprogesterone: ng/dl Androstenedione: 270 ng/dl Cortisol: 3 mcg/dl; DHEA-SO4: 26 mcg/dl Progesterone: 4.9 ng/ml; SHBG: 55 mmol/l Testosterone: 88 ng/dl; PRA: 4.4 ng/ml/hr
13 Case 1: FU Increased her hydrocortisone to 15 mg AM 5 mg early PM and added fludrocortisone acetate 0.05 mg/d (regular adrenal insufficiency regimen). On FUV she reports some more energy, less tachycardia, and stable weight. Repeat labs: 17-Hydroxyprogesterone: 9100 ng/dl Androstenedione: 210 ng/dl Progesterone: 3.8 ng/ml; SHBG: 109 mmol/l Testosterone: 65 ng/dl; PRA: 2.2 ng/ml/hr Two years later, she returns because now she wants to stop the OCP and have children. Her labs are about the same. Questions: Is her control adequate to become pregnant, and if not what is off? What treatment changes would you recommend? Would you recommend genetic testing?
14 Case 1: FU Answers: Even if she has regular menses after stopping the OCP, her adrenal-derived progesterone production is too high. We need to blunt the AM rise in ACTH to control this, and hydrocortisone will not do the job. We lowered the hydrocortisone to 10 mg AM + 5 mg early PM and added 1 mg prednisolone (liquid) at bedtime. We already roughly know her genotype (2 classic CAH alleles), but if they are considering prenatal treatment (which is experimental by Endocrine Society policy) or want to be prepared, you could offer genetic testing to her spouse. Repeat labs after adding prednisolone (0800) are at goal: Androstenedione: 65 ng/dl Testosterone: 31 ng/dl Progesterone: 0.42 ng/ml
15 Case 2: Classic CAH 27 YO WF Dx SWCAH at Birth Gential Reconstruction, Menses Age 15 Stopped Rx Age 18-24, Amenorrhea Married, Started Rx, Wants Children Prednisone 5 mg AM 3 mg HS, FC 0.1 mg Menses Regular 6 mo, hcg, ++Bruises T <0.2, AD <0.3, 17OHP 1.4 What Would You Do Next? HSG: R Obstructed, L Patent, Small Uterine Cavity T 0.22, AD 0.5, P4 2.0 (day 15-16)
16 Case 3: History & Exam A 20 YO WM with SWCAH was referred to your clinic for poor control. He was treated with hydrocortisone and fludrocortisone as a child, and he was tall relative to his peers but stopped growing at age 14. He was switched to once daily prednisone in his teens for convenience, and his dose has been increased due to poor control. He does not complain of easy bruising, muscle weakness, or poor sleep, but he has gained weight over the last several years and has only fair energy throughout the day. He is now taking prednisone 5 mg BID and fludrocortisone acetate 0.1 mg BID plus PRN cetirizine. Exam: BP 116/69, HR 116, Wt 236 lbs, Ht 5 5 Proportionately overweight without supraclavicular fat pads or facial plethora No purple striae, skin thinning, or muscle weakness Heart, lungs, abdomen, neurologic unremarkable; no edema Testicles are 4 cc and firm but without masses
17 Case 3: Labs, Questions Laboratory data (0900 draw, after AM dose of prednisone): Potassium: 4.2 mmol/l ACTH 108 pg/ml 17-Hydroxyprogesterone: ng/dl Androstenedione: 760 ng/dl DHEA-SO4: 35 mcg/dl Testosterone: 220 ng/dl with SHBG: 17 mmol/l PRA: 6.8 ng/ml/hr LH: <0.1 IU/L; FSH: <0.3 IU/L Questions: Is he taking the prednisone? How would you characterize his control? Where is the testosterone coming from? What would you predict for his semen analysis? What are two possible reasons for his poor energy level? How would you change his regimen?
18 Case 3: Treatment Answers: The low DHEAS indicates that he is at least intermittently taking his prednisone, but the ACTH should be suppressed for several hours after a 5 mg prednisone dose. He is in poor control, and it is likely that he is not efficiently converting the prednisone to prednisolone. The atrophic testes, high AD, and suppressed LH/FSH indicate that most of his T is coming from his adrenal precursors and probably azoospermic. He is volume depleted and inadequately replaced with glucocorticoid, both of which could lead to fatigue. We could switch him to hydrocortisone, dexamethasone, or prednisolone, and prednisolone was chosen 5 mg BID for simplicity and to understand why his control is poor; he was told to eat more salt. Repeat labs: Potassium: 3.9 mmol/l Androstenedione: 130 ng/dl Testosterone: 198 ng/dl LH: 4.5 IU/L; FSH: 4.3 IU/L
19 Case 3: Results, Questions At FU, he reports significantly more energy and is exercising regularly. He lost some weight, and testes are now 6 cc. We started tapering the PM dose of prednisolone at 2.5 mg. Question: What if he had large testicular adrenal rests rather than small testes? Answer: If you catch this early enough, you can shrink the rests and restore fertility (but not always) with dexamethasone, either a full dose HS for a few months or a smaller dose added to AM hydrocortisone or prednisolone. Surgery will permanently remove the rests but not restore fertility. I discuss sperm banking in young males with CAH without rests.
20 Case 4: NCAH 28 YO woman with nonclassical CAH diagnosed at age 10, treated first with dexamethasone then only OCP She is now married and wants to start a family. Where do you start? How is the approach to the patient with NCAH different than classic CAH?
21 Nonclassic 21OHD & Fertility Ascertainment Rate is Low <15% Present For Infertility 83% Pregnant in 1 Year +/- Treatment High Rate of Miscarriage 26% Without Rx, 6.5% With Hydrocortisone No Evidence of Infertility or TART in Men Often Stop Rx After Puberty Consider Genotyping Patient, Partner Stress Dosing Only If Suppressed Bidet et al 2010 JCEM 95:1182
22 Glucocorticoid Step Therapy Step Drug(s) Frequency Total daily dose 1 Hydrocortisone TID or BID mg 2 Hydrocortisone BID-TID mg + Prednisolone HS mg + Dexamethasone HS mg 3 Prednisolone BID or TID 5-15 mg 4 Dexamethasone QD or BID mg
23 Laboratory Monitoring Analyte Physiology Goals & Comments Plasma renin Volume status Low to normal unless hypertension Sodium Glucocorticoid Goal is normal Potassium Mineralocorticoid Goal is normal Testosterone (T) Total androgens Adrenal + gonadal Androstenedione Mostly adrenal Assess with T SHBG T binding protein Estrogen raises DHEAS Major adrenal Should be low in classic; compliance 17OHP Highly variable Should not be low
24 Laboratory Monitoring Analyte Physiology Goals & Comments Men Gonadotropins Gonadal axis Normal Androstenedione Adrenal Normal Testosterone Adrenal & gonadal Normal* A/T Ratio Adrenal/gonadal <0.5 Semen analysis Fertility Normal Women Progesterone Adrenal Normalize for fertility & corpus luteum (<0.6 ng/ml) during follicular phase
25 Summary SW/SV Distinction Not Useful In Adults Most Should Continue Fludrocortisone Dissociate Androgen Excess & Adrenal Replacement Therapies Attention to Adrenal and Rest Tumors Progesterone Key To Female Fertility?Sperm Banking for Males Genotype NCAH Pre-pregnancy Individualize Treatment Goals
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