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Non-Classical Adrenal
Hyperplasia
by Yael Rosenberg, RN
Description
Non-Classical Adrenal Hyperplasia is an autosomal recessive disease
that is the result of mutation of the CYP21B gene located on
chromosome 6. It causes a defect in one of the enzymes in the
adrenal cortex responsible for the conversion of cholesterol to
cortisol. This is a milder and non life threatening form than the
classical adrenal hyperplasia, since it has a lesser deficiency of
the enzyme. Unlike CAH there is only a partial enzyme deficiency so
symptoms are much less severe.
Symptoms
Affecting both male and female:
• Premature growth of pubic and underarm hair
• Childhood body odor which normally does not smell
• Early and rapid growth spurt in childhood, however as
adults thy tend to be short
• Hair and skin tend to be oily
• Serious case of acne
• Mood swings including anxious and depressive moods
• Fertility issues
In Females:
• Early menarche
• Irregular menstrual periods
• Hirsutism (increased growth of hair often especially facial
hair)
Sometimes this disease can be confused with Polycystic Ovarian
Syndrome (PCOS) which has similar symptoms
In Males:
• Males tend to be short
• Premature growth of beard
• Disproportionately enlarged penis and small testicles
• Diminished sperm count
There are individuals who are asymptomatic and are tested and
diagnosed just because they have relatives with the disorder.
Incidence and Carriers
Carrier Frequency: 1 in 3 in the Ashkenazi Jewish population
1 in 61 worldwide
Disease Frequency: 1 in 27 in the Ashkenazi Jewish population
1 in 100 in non-Ashkenazi Jews.
1 in 15,000 worldwide
Treatment
Non-classical Adrenal Hyperplasia symptoms are treatable with very
low dose glucocorticoids.
Women that have hirsutism and acne may be treated oral contraceptive
which suppress androgen production by the ovaries, instead of
glucocorticoids that present with risks and side effects. This
treatment is also recommended for better management of menstrual
cycles and bleeding. However, those who seek fertility may first be
treated with corticoids and then with reproductive assistive meds
such as clomid, if the corticoids are deemed to be ineffective.
Treatment is not required for men unless testicular masses are
present
Testing
Diagnosis: through blood test done in the morning to test levels of
adrenal steroids
Genetic testing: of the 21-hydroxylase gene. In Ashkenazi Jews the
test can detect carriers 95% of the time.
Laboratories and Screening
The following laboratories offer genetic testing for Canavan
Disease:
• United States
• Israel
• Canada
• India
• Europe
UNITED STATES
Athena Diagnostics Inc
Reference Lab
Worcester, MA
Phone: (800) 394-4493
or (508) 756-2886 (For callers outside the US and Canada)
Fax: (508) 753-5601
Website:
http://www.athenadiagnostics.com
Center for Genetic Testing at Saint Francis
6161 S. Yale Avenue
Tulsa, OK 74136
Toll Free: (866) 846-0315
Phone: (918) 502-1720 (Main Office)
Fax: (918) 502-1723
Email:
fvschaefer@saintfrancis.com
Comprehensive Genetic Services (CompGene)
3720 North 124th St
Milwaukee, WI 53222
Toll Free: (877) COMPGENE
Phone: (414) 393-1000
Fax: (414) 393-1399
Email: info@compgene.com
Esoterix Laboratory Services, Inc.
4301 Lost Hills Road
Calabasas Hills, CA 91301
Phone: (800) 444-9111
Fax: (818) 880-8541
Mayo Medical Laboratories
3050 Superior Drive NW
Rochester, MN 55901
Phone: (800) 533-1710
Phone: (507) 266-5700
Fax: (507) 284-4542
Quest Diagnostics-Nichols Institute
Molecular Genetics Laboratory
Medical Director, Charles Strom, MD, PhD
33608 Ortega Highway
San Juan Capistrano, CA 92690
Contact: Joy Redman, MS, Genetic Counselor
Phone: (949) 728-4279
Fax: (949) 728-4874
ISRAEL
GGA –Galil Genetic Analysis Ltd
P.O.B. 3664
Kazerin, Hatzafon, Israel 12900
Phone: (+972) 4-9007100
Fax: (+972) 4-9007111
Email: gga@gga.org.il
CANADA
Alberta Children's Hospital
Molecular Diagnostic Laboratory
Calgary, Alberta, Canada
Phone: (403) 955-7026
Fax: (403) 955-7624
INDIA
Sir Ganga Ram Hospital
Center of Medical Genetics
New Delhi, Delhi, India
Contact: Renu Saxena, PhD
Phone: (+91) 11-42252139
Fax: (+91) 11-42251034
Email: renu@saxena.com
EUROPE
• Germany
• Slovakia
• Spain
• Sweden
• Turkey
GERMANY
Bio.logis Center for Human Genetics
Frankfurt, Germany
Genetic Counselor: Prof Daniela Steinberger, MD, PhD
Phone: (+49) 6953-084-37
Fax: (+49) 6953 084-37-11
Email:
Daniela.steinberger@bio.logis.de
Bioscientia GmbH
Center for Human Genetics
Ingelheim, Germany
Contact: Dr Nadine Bachmann
Phone: (+49) 6132-781-429
Fax: (+49) 6132-781-194
Email:
nadine.bachmann@bioscientia.de
Centogene GmbH
Schillingalee 68
18057 Rostock
Germany
Phone: (+49) 381-203652-0
Fax: (+49) 381-203652-19
Email:
office@centogene.com
Diagenom GmbH
Robert-Koch-Str. 10
D-18059 Rostock
Germany
Tel. (+49) 381-7022750
Fax (+49) 381-7022759
Email: mail@diagenom.de
Institute of Medical Diagnostics
Human Genetics
Nicolaistr. 22
Berlin, Germany 12247
Contact: Stephan Niemann, MD, PhD
Phone: (+49) 307-7001 ext 211
Fax: (+49) 307-7001 ext 332
Email:
sniemann@imd-berlin.de
MGZ
Medical Genetics Center
Bayerstraße 3-5 (durch die Mathäser-Passage)
Eingang Schlosserstraße 6
80335 München
Phone: (+49) 89-30 90 886-0
Fax: (+49) 89-30 90 886-66
Email:
info@mgz-muenchen.de
SLOVAKIA
Medgene s.r.o.
laboratórium lekįrskej genetiky
Bratislava, Slovakia
Phone: (+421) 2-20737474
Contact: Martina Hikkelova, RNDr
Phone: (+421) 2-20737474
Fax: (+421) 2- 33016065
Email: genetests@medgene.eu
SPAIN
BioscUniversidad Autonoma de Madrid
Centro de Diagnostico de Enfermedades Moleculares
Madrid, Spain
Director: Magdalena Ugarte, PhD
Genetic Counselor: Dr Lourdes Ruiz Desviat, PhD
Phone: (+34) 91196-4566
Fax: (+34) 91497-4863
Email: lruiz@cbm.uam.es
SWEDEN
Department of Clinical Genetics
Karolinska University Hospital, Solna
S-171 76 Stockholm
Phone: (+46) 8-51770000
Director: Magnus Nordenskjold, MD, PhD
Phone: (+46) 8-51773928
Fax: (+46) 8-327734
Email:
magnus.nordenskjold@ki.se
TURKEY
Duzen Laboratuvarlar Grubu
Tunus Caddesi No: 95 06680
Istanbul, Ankara, Turkey
Phone: (+90) 312-468 70 10 (9 hat pbx)
Phone: (+90) 312- 427 81 70 (4 hat pbx)
Fax: (+90) 312-427 81 74
Istanbul, Ankara, Turkey
Contact: Kanay Yararbas, MD
Phone: (+90) 2122724803
Fax: (+90) 2122724804
Email:
kanayyararbas@duzen.com.tr
Resources and More
CARES Foundation, Inc.
Kelly R. Leight, Executive Director
PO Box 264
Short Hills, NJ 07078
Email:
Kelly@caresfoundation.org
Support Groups
Climb (Children Living with Inherited Metabolic Diseases)
Family Services
Toll Free: (+44) 800- 652-3181 (open 10am – 4pm BST)
Phone: (+44) 845-241-2172
Email: fam.svcs@climb.org.uk
Magic Foundation
6645 W. North Avenue
Oak Park, IL 60302
Toll Free: (800) 3-MAGIC-3 (800-362-4423)
Magic-CAH
Web:
http://health.groups.yahoo.com/group/MAGIC-CAH
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