Dear Julie,
Congratulations! Yes, you should start the Dex asap ( I believe the article by Dr. New says before the 9th week, others say by the 6th), if you choose to have the pre-natal treatment. Last month, I spoke at length to Dr. Walter Miller, of UCSF about pre-natal treatment. He is the researcher who has been cautioning physicians about the treatment. One of his biggest concerns has to do with regular ob/gyns administering the treatment. He feels that there is not enough data to show its safety, despite Dr. New's new report released in December, 2001, and he feels that women considering the therapy should only do so under the care of a clinical protocol, such as Dr. New's or another such program that exists in Lyon, France. His concerns were that regular ob/gyns did not have experience with the therapy. Dosing is of particular importance. He also preferred CVS vs. amnio because you get the results back much sooner and don't need to be on the meds any longer than necessary if it is an unaffected female or a male. But, there are only a few hospitals that do the CVS, so you may need to look into this.
He is chairing a CAH consensus conference in March and I have asked him to please come up with concrete guidelines on pre-natal treatment. The families really need to help here! So, in the interim, I thought I'd pass along his words (I hope I got it right) in the hopes of shedding some light on the subject. Here are a few articles attached below for you to look up. You can go to your local hospital library and should be able to get access there online. Run a search on PubMed for CAH and prenatal treatment and you will get lots of articles. These are just a few.
If you are interested in Dr. New's clinical program, please contact CARES Foundation and we can give you her contact information.
Good Luck!
CARES Foundation, Inc.
(Congenital Adrenal hyperplasia Research, Education and Support)
973-912-3895
866-227-3737 (toll free)
email: kelly@caresfoundation.org
URL: www.caresfoundation.org
Disclaimer:
Any communication from CARES Foundation, Inc. is intended for informational and educational purposes only and in no way should be taken to be the provision or practice of medical, nursing or professional health-care advice or services. The information should not be considered complete or exhaustive and should not be used in place of the visit, call, consultation or advice of your physician or other health-care provider. You should not use the information in this or any CARES Foundation, Inc. communication to diagnose or treat CAH or any other disorder without first consulting with your physician or healthcare provider. Any referral to physicians is provided as a courtesy only. CARES Foundation, Inc. does not specifically endorse or recommend these physicians.
| J Clin Endocrinol Metab 2001 Dec;86(12):5651-7 | Related Articles,  Books, LinkOut |
Prenatal diagnosis for congenital adrenal hyperplasia in 532 pregnancies.
New MI, Carlson A, Obeid J, Marshall I, Cabrera MS, Goseco A, Lin-Su K, Putnam AS, Wei JQ, Wilson RC.
Pediatric Endocrinology, New York Presbyterian Hospital-Weill Cornell Medical Center, New York, New York 10021, USA.
Congenital adrenal hyperplasia (CAH) refers to a family of monogenic inherited disorders of adrenal steroidogenesis most often caused by enzyme 21-hydroxylase deficiency (21-OHD). In the classic forms of CAH (simple virilizing and salt wasting), androgen excess causes external genital ambiguity in newborn females and progressive postnatal virilization in males and females. Prenatal treatment of CAH with dexamethasone has been successfully used for over a decade. This article serves as an update on 532 pregnancies prenatally diagnosed using amniocentesis or chorionic villus sampling between 1978 and 2001 at New York Presbyterian Hospital-Weill Medical College of Cornell University. Of the 532 pregnancies, 281 were prenatally treated for CAH due to the risk of 21-hydroxylase deficiency. Follow-up telephone interviews with mothers, genetic counselors, endocrinologists, pediatricians, and obstetricians were performed in all cases. Of the pregnancies evaluated, 116 babies were affected with classic 21-OHD. Of these, 61 were female, 49 of whom were treated prenatally with dexamethasone. Dexamethasone administered at or before 9 wk gestation (in proper doses) was effective in reducing virilization. There were no statistical differences in the symptoms during pregnancy between mothers treated with dexamethasone and those not treated with dexamethasone, except for weight gain, edema, and striae, which were greater in the treated group. No significant or enduring side-effects were noted in the fetuses, indicating that dexamethasone treatment is safe. Prenatally treated newborns did not differ in weight from untreated, unaffected newborns. Based on our experience, prenatal diagnosis and proper prenatal treatment of 21-OHD are effective in significantly reducing or eliminating virilization in the newborn female. This spares the affected female the consequences of genital ambiguity, genital surgery, and possible sex misassignment.
PMID: 11739415 [PubMed - indexed for MEDLINE]
Miller WL.
Department of Pediatrics, Child Health Research Center, University of California, San Francisco, USA.
Congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency is a common cause of genital virilization in female infants resulting from inappropriate fetal adrenal androgen secretion. Some investigators have advocated treating pregnant women who are at risk for carrying a CAH fetus with dexamethasone to suppress fetal adrenal androgen synthesis. Experience to date shows that this treatment can be effective in ameliorating the genital virilization in female fetuses. However, the doses used are supraphysiological, the mechanism of dexamethasone action in the fetus is unclear and no long-term followup studies have been done. To be effective the treatment would need to be started by week 6 of gestation but the genetic diagnosis cannot be made until week 12. If the mother has had a previous CAH child, only 1 in 4 pregnancies will be affected and only the female fetuses stand to benefit from treatment, thus, 7 of 8 fetuses will be treated needlessly. In view of these and other concerns, the prenatal treatment of CAH remains an experimental therapy and, hence, must only be done with fully informed consent in controlled prospective trials approved by human experimentation committees at centers that see enough of these patients to collect meaningful data.
PMID: 10411085 [PubMed - indexed for MEDLINE]
| J Urol 1999 Aug;162(2):534-6 | Related Articles, Books, LinkOut |
Prenatal treatment of congenital adrenal hyperplasia.
Speiser PW.
Division of Pediatric Endocrinology and Metabolism, North Shore University Hospital, Manhasset, New York, USA.
PURPOSE: The relevant aspects of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH-21), the single most common cause of female pseudohermaphroditism, are reviewed to understand the benefits and risks of prenatal intervention. Timely diagnosis is important, since infants with this condition may suffer adrenal insufficiency which carries a high mortality rate. MATERIALS AND METHODS: Infants suspected of having CAH-21 should undergo radioimmunoassay of serum 17-hydroxyprogesterone, karyotype and pelvic/abdominal ultrasound at a minimum. Treatment with glucocorticoid and mineralocorticoid supplements should be instituted immediately. Surgical correction of genitourinary tract anomalies should be performed by a pediatric urologist experienced in this area. RESULTS: Proper postnatal medical and surgical management of CAH-21 will allow the patient to thrive. Many women with classic CAH-21 have now conceived and delivered healthy children. Prenatal diagnosis, now most often done by molecular genetic techniques, is feasible and often done in conjunction with prenatal treatment of the at risk mother. CONCLUSIONS: CAH-21 has been well characterized. The benefit of prenatal therapy is to ameliorate potentially genital ambiguity in affected female subjects. The risks of unnecessarily treating unaffected pregnancies, which now seem small, may not be fully elucidated for many years. Prenatal treatment must be done under careful, centralized and ideally long-term medical supervision.
PMID: 10411084 [PubMed - indexed for MEDLINE]
| JAMA 1997 Apr 2;277(13):1077-9 | Related Articles, Books, LinkOut |
Comment in:
How safe is long-term prenatal glucocorticoid treatment?
Seckl JR, Miller WL.
Molecular Medicine Centre, University of Edinburgh, Western General Hospital, Scotland.
PMID: 9091698 [PubMed - indexed for MEDLINE]