Summary
Definition
History and exam
Key diagnostic factors
- genetic predisposition
- weight loss
- failure to thrive
- vomiting
- hypotension
- ambiguous genitalia
- hyperpigmentation
Other diagnostic factors
- poor feeding
- irregular menses
- infertility
- male-pattern baldness (females)
- short stature
- precocious puberty
- polycystic ovaries
- hirsutism
- severe cystic acne
Diagnostic investigations
1st investigations to order
- serum 17-hydroxyprogesterone
- serum 11-deoxycortisol
- serum chemistry
- microfilter paper radioimmunoassay for 17-hydroxyprogesterone
- genetic analysis
- rapid ACTH stimulation test
- karyotype or fluorescence in-situ hybridisation (FISH) for X and Y chromosome detection
Investigations to consider
- plasma renin activity
- pelvic and adrenal ultrasound
Treatment algorithm
Contributors
Authors
Mabel Yau, MD
Assistant Professor of Pediatrics
Icahn School of Medicine at Mount Sinai School
New York
NY
Disclosures
MY declares that she has no competing interests.
Ahmed Khattab, MD
Assistant Professor of Pediatrics
Icahn School of Medicine at Mount Sinai School
New York
NY
Disclosures
AK declares that he has no competing interests.
Adnan Qamar, MBBS
Clinical Research Assistant/Observer
Department of Pediatrics - Adrenal Steroids Division
Icahn School of Medicine at Mount Sinai School
Mount Sinai School of Medicine
New York
NY
Disclosures
AQ declares that he has no competing interests.
Saroj Nimkarn, MD
Assistant Professor of Pediatrics
Bumrungrad International Hospital
Bangkok
Thailand
Disclosures
SN declares that he has no competing interests.
Karen Lin-Su, MD
Associate Professor of Pediatrics
Weill Cornell School of Medicine
New York
NY
Disclosures
KLS is an author of several references cited in this monograph.
Oksana Lekarev, DO
Assistant Professor of Pediatrics
Weill Cornell School of Medicine
New York
NY
Disclosures
OL declares that she has no competing interests.
Maria I. New, MD
Professor of Pediatrics
Director of the Adrenal Steroid Disorders Program
Icahn School of Medicine at Mount Sinai School
New York
NY
Disclosures
MIN is an author of several references cited in this monograph.
Acknowledgements
The contributors would like to gratefully acknowledge Dr Jessica Kaltman, a previous contributor to this monograph. JK declares that she has no competing interests.
Peer reviewers
Lefke Karaviti, MD, PhD
Associate Professor of Pediatrics
Texas Children's Hospital Clinical Care Center
Baylor College of Medicine
Houston
TX
Disclosures
LK declares that she has no competing interests.
Dianne Deplewski, MD
Assistant Professor of Pediatrics
University of Chicago
Chicago
IL
Disclosures
DD declares that she has no competing interests.
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