PMID- 8810740
OWN - NLM
STAT- MEDLINE
DCOM- 19961204
LR  - 20190905
IS  - 0804-4643 (Print)
IS  - 0804-4643 (Linking)
VI  - 135
IP  - 2
DP  - 1996 Aug
TI  - 11 beta-Hydroxysteroid dehydrogenase deficit: a rare cause of arterial 
      Hypertension. Diagnosis and therapeutic approach in two young brothers.
PG  - 238-44
AB  - We report the clinical history and results of endocrine investigations in two 
      brothers born to consanguineous parents, who presented with hypokalemia and 
      arterial hypertension when they were aged 2 and 6 years. The hormonal serum assay 
      results, including extremely low values for aldosterone and plasma renin 
      activity, favored the existence of apparent mineralocorticoid excess. A diagnosis 
      of 11 beta-hydroxysteroid dehydrogenase (11 beta-HSD) deficiency was made, based 
      on assays of the hydrogenated urinary metabolites of cortisol and cortisone, as 
      well as of corticosterone and dehydrocorticosterone. Indeed we found a very low 
      rate of urinary elimination of cortisone metabolites: tetrahydrogenated cortisone 
      was reduced to between 0.10 and 30 mumol/24 h, which is 15-100 times lower than 
      the normal rate; hexahydrogenated cortolones alpha and beta were found to be 7- 
      to 20-fold lower than normal levels; and the 11-keto-17-ketosteroid derivatives 
      of cortisone were also reduced. Urinary elimination of the cortisol-reduced 
      metabolites 5 beta- and 5 alpha-tetrahydrogenated cortisol were slightly reduced 
      or normal. These results argue in favor of a deficit in the enzyme 11 beta-HSD, 
      which oxidizes cortisol into cortisone. A moderate defect in the conversion of 
      cortisol into 5 beta-THF compared to normal conversion into 5 alpha-THF was also 
      found. With respect to corticosterone metabolism, we demonstrated the presence of 
      a defect in the oxidation of that steroid into dehydrocorticosterone, also due to 
      the deficit in 11 beta-HSD. Arterial hypertension and hypokalemia were corrected 
      by treatment with dexamethasone, concomitantly with correction of the low 
      aldosterone and plasma renin activity levels. On the other hand, during this 
      treatment, urinary concentrations of the metabolites of cortisol, cortisone and 
      corticosterone were only moderately affected.
FAU - Gourmelen, M
AU  - Gourmelen M
AD  - Laboratoire d'Explorations Endocriniennes, Hopital Trousseau, Paris.
FAU - Saint-Jacques, I
AU  - Saint-Jacques I
FAU - Morineau, G
AU  - Morineau G
FAU - Soliman, H
AU  - Soliman H
FAU - Julien, R
AU  - Julien R
FAU - Fiet, J
AU  - Fiet J
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
PL  - England
TA  - Eur J Endocrinol
JT  - European journal of endocrinology
JID - 9423848
RN  - 0 (Mineralocorticoids)
RN  - 4964P6T9RB (Aldosterone)
RN  - 7S5I7G3JQL (Dexamethasone)
RN  - EC 1.1.- (Hydroxysteroid Dehydrogenases)
RN  - EC 1.1.1.146 (11-beta-Hydroxysteroid Dehydrogenases)
RN  - EC 3.4.23.15 (Renin)
RN  - V27W9254FZ (Cortisone)
RN  - WI4X0X7BPJ (Hydrocortisone)
SB  - IM
MH  - 11-beta-Hydroxysteroid Dehydrogenases
MH  - Aldosterone/blood
MH  - Child
MH  - Child, Preschool
MH  - Cortisone/metabolism
MH  - Dexamethasone/therapeutic use
MH  - Humans
MH  - Hydrocortisone/metabolism
MH  - Hydroxysteroid Dehydrogenases/blood/*deficiency/urine
MH  - Hypertension/drug therapy/*etiology
MH  - Male
MH  - Mineralocorticoids/metabolism
MH  - Renin/blood
RF  - 50
EDAT- 1996/08/01 00:00
MHDA- 1996/08/01 00:01
CRDT- 1996/08/01 00:00
PHST- 1996/08/01 00:00 [pubmed]
PHST- 1996/08/01 00:01 [medline]
PHST- 1996/08/01 00:00 [entrez]
AID - 10.1530/eje.0.1350238 [doi]
PST - ppublish
SO  - Eur J Endocrinol. 1996 Aug;135(2):238-44. doi: 10.1530/eje.0.1350238.