PMID- 6288753
OWN - NLM
STAT- MEDLINE
DCOM- 19821203
LR  - 20151119
IS  - 0021-972X (Print)
IS  - 0021-972X (Linking)
VI  - 55
IP  - 5
DP  - 1982 Nov
TI  - Late-onset steroid 21-hydroxylase deficiency: a variant of classical congenital 
      adrenal hyperplasia.
PG  - 817-27
AB  - Hormonal studies and human leukocyte antigen (HLA) genotyping were performed in 5 
      males and 13 females who were demonstrated to have 21-hydroxylase deficiency. The 
      enzymatic deficiency of steroidogenesis was detected by family studies of 10 
      females who presented with varying symptoms of androgen excess. The 10 index 
      cases had normal genitalia at birth, but virilized to varying degrees 
      postnatally. The additional 8 affected family members had not sought medical 
      care, but some were found to have signs of virilization on physical examination, 
      while others were normal. Thus both late-onset (symptomatic) and cryptic 
      asymptomatic) 21-hydroxylase deficiency occurred in the same pedigree. The 
      hormonal and genetic linkage studies indicate that the late-onset (symptomatic) 
      form of 21-hydroxylase deficiency, like the cryptic (asymptomatic) and classical 
      forms of 21-hydroxylase deficiency, is transmitted by an autosomal recessive gene 
      which is linked to HLA-B. Furthermore, the classical form of 21-hydroxylase 
      deficiency associated with prenatal virilization is transmitted by an allelic 
      variant for steroid 21-hydroxylase different from that of the nonclassical forms, 
      late-onset (symptomatic) and cryptic (asymptomatic) 21-hydroxylase deficiency. 
      Although these latter 2 disorders have different clinical manifestations, they 
      demonstrate a similar degree of steroid 21-hydroxylase deficiency that is less 
      severe than that observed in classical 21-hydroxylase deficiency. The hormonal 
      and genetic linkage data indicate that cryptic (asymptomatic) and late-onset 
      (symptomatic) 21-hydroxylase deficiency result from the same allelic variant at 
      the steroid 21-hydroxylase locus. A glossary of terms is presented to describe 
      the various allelic forms of 21-hydroxylase deficiency with consistency.
FAU - Kohn, B
AU  - Kohn B
FAU - Levine, L S
AU  - Levine LS
FAU - Pollack, M S
AU  - Pollack MS
FAU - Pang, S
AU  - Pang S
FAU - Lorenzen, F
AU  - Lorenzen F
FAU - Levy, D
AU  - Levy D
FAU - Lerner, A J
AU  - Lerner AJ
FAU - Rondanini, G F
AU  - Rondanini GF
FAU - Dupont, B
AU  - Dupont B
FAU - New, M I
AU  - New MI
LA  - eng
GR  - HD-00072/HD/NICHD NIH HHS/United States
GR  - HD-15084/HD/NICHD NIH HHS/United States
GR  - HD-5895/HD/NICHD NIH HHS/United States
GR  - etc.
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - J Clin Endocrinol Metab
JT  - The Journal of clinical endocrinology and metabolism
JID - 0375362
RN  - 0 (Androgens)
RN  - 0 (HLA Antigens)
RN  - 0 (HLA-B Antigens)
RN  - 0 (Hydroxyprogesterones)
RN  - 9002-60-2 (Adrenocorticotropic Hormone)
RN  - EC 1.14.- (Steroid Hydroxylases)
SB  - IM
MH  - Adolescent
MH  - *Adrenal Hyperplasia, Congenital/blood/*genetics
MH  - Adrenocorticotropic Hormone
MH  - Adult
MH  - Androgens/blood
MH  - Child
MH  - Female
MH  - HLA Antigens/genetics
MH  - HLA-B Antigens
MH  - Humans
MH  - Hydroxyprogesterones/blood
MH  - Infant
MH  - Male
MH  - Middle Aged
MH  - Pedigree
MH  - Steroid Hydroxylases/*deficiency
EDAT- 1982/11/01 00:00
MHDA- 1982/11/01 00:01
CRDT- 1982/11/01 00:00
PHST- 1982/11/01 00:00 [pubmed]
PHST- 1982/11/01 00:01 [medline]
PHST- 1982/11/01 00:00 [entrez]
AID - 10.1210/jcem-55-5-817 [doi]
PST - ppublish
SO  - J Clin Endocrinol Metab. 1982 Nov;55(5):817-27. doi: 10.1210/jcem-55-5-817.