Communication for the Heartland Regional Genetics Group


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"Troxell, Robin M." <[log in to unmask]>
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Communication for the Heartland Regional Genetics Group <[log in to unmask]>
Tue, 19 Dec 2006 13:46:50 -0600
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Hello listserves - 
I have a patient in prenatal clinic who was last seen in June 2004 due to 38 week stillbirth after completely normal pregnancy.  A autopsy was performed after delivery and showed enlarged adrenal glands which were dark brown instead of the typical bright yellow. The child had apparently normal male genitals.  also noted to have thin, fine, black hair along the entire surface of his back and buttocks. In addition the thymus weight was 18.1 grams, which was nearly twice the expected weight. Based on these findings, the pathology report suggested a possible diagnosis of congenital adrenal hyperplasia. The report also noted that adreno-cortical hyperplasia can be seen in other syndromes such as McCune-Albright syndrome as well as MEN-I syndrome, and Beckwith-Wiedemann syndrome. Material was obtained and sent for chromosome analysis, but the cells didn't grow. After the autopsy report, the OB ordered a 17-hydroxy progesterone level on mom, however, it was apparently not a 60 minute ACTH stimulated level and the results, while normal, are not really helpful.  The pt was supposed to obtain insurance coverage for CAH DNA testing, but she apparently did not do so, and is now 13 weeks and coming for a first trimester screen.  Anything else we should do today, while trying to get dna testing covered (if they are interested)?  Offer amnio since we never got any chromosome results on the stillborn?
Thanks -
Robin M. Troxell, MS, CGC
Genetic Counselor
University of Missouri Department of Child Health
Mercy St. John's Hospital (Springfield, MO)
(p) 417-820-9839
(f) 417-820-3720
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