QUESTION-36-year-old female was referred here for evaluation of congenital adrenal hyperplasia and 1st pregnancy at 14 th week. At the age of 15, she was evaluated for hirsutism on her face and back; and workup showed congenital adrenal hyperplasia. In review of notes from 8/1994, total testosterone was 58 and free testosterone was 7.7 both mildly elevated. She had elevated 17-OH hydroxyprogesterone to 1987 after COSYNTROPIN stimulation in 6/1994 from another hospital. Her baseline 17 hydroxyprogesterone was 324. She was diagnosed as possible 3 beta-hydroxy steroid dehydrogenase deficiency per clinical presentation. She had menarche at the age of 13 and menstrual cycles are every 5 weeks. On her initial exam, there was no clitoral enlargement. She used prednisone 5 MG/d between1995-1997. Her total testosterone level came down to 26. She also used short period of spironolactone. She was seen at the adult endocrinology clinic in 2001 in 2002.. She has been off on any medication since 2000 except Depo-Provera. She easily became pregnant. Her main symptom is mild hair growth on her chin face and chest which she treats with electrolysis. She does not have salt craving, dizziness, lightheadedness, abnormal weight gain, muscle weakness, cramps, headaches, changing or deepening of voice, nipple discharge or joint pain. Her past medical history is significant for DVT on her arm and coagulopathy as well as 3 episodes of pancreatitis in 1997, 1999 and 2001 due to sphincter Oddi problem. She is status post spincterotomy. Her most recent laboratory tests from 12/2013 amylase 152 and lipase 120 both are elevated. She does not have any abdominal pain or jaundice. On 12/20/13 sodium 133 potassium 2.6 creatinine 0.7 calcium 9.4 LDL 91 HDL 65 and TSH 1.7.
Her family history is negative for similar situations but her mother has hypothyroidism. She is married she denies smoking or use of alcohol, she works as a physical therapist. She takes prenatal vitamins including DHEAS
Exam: Unremarkable other than mild terminal hair on the chin and mustache area.
Labs at/around 14th week of pregnancy
Total testosterone: 65 (n<50)
bioav. testosterone 1.9 (0-9.5)
DHEAS 56 (45-270)
Androstenodione 255 (28-230)
AM cortisol : 27, ACTH 10
17-OHP: 64 (54-157)
17-OHpregnolonone: 25 (53-357) Genetic testing--21-alpha hydroxylase mutation from Labcore/Esoterix: negative for3 BHSD mutation is negative
SRY molecule from mother's blood negative (indicates female fetus)
There is a geneticist is involved with the case.There is no information about the husband if he
has a CAH mutation
1- Is this mother has CAH ? (elevated 17 OH-progesterone at 15, currently no mutation 21 alpha and 3BHSD)
2-If yes, do we really need to r/o baby (female) for CAH .? If we r/o husband for CAH, do we still need invasive attempts from fetus to r/o fetal CAH?
3-If the baby has CAH, does she need dexamethasone treatment for the rest of the pregnancy... Per notes from Endotext.org, the recommended test for the fetal CAH is to check 21-OH deficiency test from fetal sampling material obtained with C.Villus or amniosenthesis. IS there any other test we should recommend? Thanks, A.Kadir Omer MD
RESPONSE- As the mother does not have a mutation in the CYP21A2 gene (21-hydroxylase), the fetus cannot be a patient affected with congenital adrenal hyperplasia. Therefore, prenatal dexamethasone treatment is unnecessary. Please send me the molecular genetic report from Esoterix so that I may be of greater help. Maria I. New MD