PMID- 8729536
OWN - NLM
STAT- MEDLINE
DCOM- 19961015
LR  - 20190813
IS  - 0300-0664 (Print)
IS  - 0300-0664 (Linking)
VI  - 44
IP  - 3
DP  - 1996 Mar
TI  - Apparent mineralocorticoid excess due to 11 beta-hydroxysteroid dehydrogenase 
      deficiency: a possible cause of intrauterine growth retardation.
PG  - 353-9
AB  - A Japanese boy with apparent mineralocorticoid excess (AME) is described. He was 
      born with intrauterine growth retardation (IUGR) and elevated serum level of 
      creatine phosphokinase (CPK). He was studied at 2 years of age because of 
      polyurea and polydipsia of one year's duration and was found to have hypokalaemic 
      alkalosis and sustained hypertension. His plasma renin activity and aldosterone 
      levels were always low and his ratio of urinary tetrahydrocortisol plus 
      allo-tetrahydrocortisol to that of tetrahydrocortisone was very high. Therefore, 
      AME due to 11 beta-hydroxysteroid dehydrogenase (11 beta-HSD) deficiency was 
      diagnosed. He was successfully treated with a combination of spironolactone and 
      nifedipine for at least 16 months. His blood pressure, plasma pH and serum 
      potassium levels were normalized by this treatment, but serum CPK level remained 
      high. We researched the birth records of previously reported AME cases and found 
      that IUGR is a characteristic feature of AME. The mechanism by which IUGR occurs 
      in AME is discussed and we speculate that 11 beta-HSD might be deficient in the 
      placenta and/or fetal tissues, as well as in the kidney, in AME. An explanation 
      for the elevated CPK could not be found.
FAU - Kitanaka, S
AU  - Kitanaka S
AD  - Division of Endocrinology and Metabolism, National Children's Hospital, Tokyo, 
      Japan.
FAU - Tanae, A
AU  - Tanae A
FAU - Hibi, I
AU  - Hibi I
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
PL  - England
TA  - Clin Endocrinol (Oxf)
JT  - Clinical endocrinology
JID - 0346653
RN  - EC 1.1.- (Hydroxysteroid Dehydrogenases)
RN  - EC 1.1.1.146 (11-beta-Hydroxysteroid Dehydrogenases)
SB  - IM
MH  - 11-beta-Hydroxysteroid Dehydrogenases
MH  - Alkalosis/*complications
MH  - Child, Preschool
MH  - Female
MH  - Fetal Growth Retardation/*etiology
MH  - Humans
MH  - Hydroxysteroid Dehydrogenases/*deficiency
MH  - Hypertension, Malignant/*complications
MH  - Hypokalemia/*complications
MH  - Male
MH  - Pregnancy
MH  - Syndrome
RF  - 33
EDAT- 1996/03/01 00:00
MHDA- 1996/03/01 00:01
CRDT- 1996/03/01 00:00
PHST- 1996/03/01 00:00 [pubmed]
PHST- 1996/03/01 00:01 [medline]
PHST- 1996/03/01 00:00 [entrez]
AID - 10.1046/j.1365-2265.1996.677500.x [doi]
PST - ppublish
SO  - Clin Endocrinol (Oxf). 1996 Mar;44(3):353-9. doi: 
      10.1046/j.1365-2265.1996.677500.x.