PMID- 15266606
OWN - NLM
STAT- MEDLINE
DCOM- 20050105
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 129A
IP  - 1
DP  - 2004 Aug 15
TI  - Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid 
      metabolism in Antley-Bixler syndrome.
PG  - 1-7
AB  - Antley-Bixler syndrome (ABS) is a rare condition characterized by radiohumeral 
      synostosis, craniosynostosis, midface hypoplasia, bowing of the femora, multiple 
      joint contractures, and urogenital defects. Several reports have implicated 
      errors of steroid or sterol metabolism in the pathogenesis of ABS. Evidence for 
      this has included association with maternal luteomas, fetal 21-hydroxylase 
      deficiency, early pregnancy exposure to high-dose fluconazole, lanosterol 
      14-alpha-demethylase deficiency, and a unique urinary steroid profile consistent 
      with apparent pregnene hydroxylation deficiency (APHD). We report two sibs with 
      classic ABS. During both pregnancies, mid-trimester maternal serum screening 
      demonstrated undetectable levels of uncongugated estriol (uE3). The brother had 
      ambiguous genitalia and increased serum levels of progesterone and 
      17-alpha-hydroxyprogesterone. Postnatal tests performed on the sister 
      demonstrated both the unique urinary steroid profile that defines APHD and 
      evidence of impaired lanosterol 14-alpha-demethylase activity. Our results 
      suggest that in at least some patients with ABS, the skeletal findings and 
      altered steroidogenesis are not associated with genes specific to individual 
      sterol or steroid pathways but rather are related to an element, such as NADPH 
      cytochrome P450 reductase (CPR) or cytochrome b5 (CYb5), that is common to all of 
      these pathways.
FAU - Cragun, Deborah L
AU  - Cragun DL
AD  - Cincinnati Children's Hospital Medical Center, Division of Human Genetics, 
      Cincinnati, Ohio 45229, USA.
FAU - Trumpy, Sharon K
AU  - Trumpy SK
FAU - Shackleton, Cedric H L
AU  - Shackleton CH
FAU - Kelley, Richard I
AU  - Kelley RI
FAU - Leslie, Nancy D
AU  - Leslie ND
FAU - Mulrooney, Neil P
AU  - Mulrooney NP
FAU - Hopkin, Robert J
AU  - Hopkin RJ
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - 0 (Steroids)
RN  - 0 (Sterols)
RN  - 4G7DS2Q64Y (Progesterone)
RN  - 68-96-2 (17-alpha-Hydroxyprogesterone)
RN  - FB33469R8E (Estriol)
SB  - IM
MH  - 17-alpha-Hydroxyprogesterone/blood
MH  - Abnormalities, Multiple/genetics/metabolism/*pathology
MH  - Adult
MH  - Child, Preschool
MH  - Craniosynostoses/*pathology
MH  - Estriol/*blood
MH  - Face/abnormalities
MH  - Fatal Outcome
MH  - Female
MH  - Genitalia/abnormalities
MH  - Humans
MH  - Infant
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Male
MH  - Pregnancy
MH  - Pregnancy Trimester, Third
MH  - Progesterone/blood
MH  - Siblings
MH  - Steroids/*metabolism
MH  - Sterols/*metabolism
MH  - Syndrome
EDAT- 2004/07/22 05:00
MHDA- 2005/01/06 09:00
CRDT- 2004/07/22 05:00
PHST- 2004/07/22 05:00 [pubmed]
PHST- 2005/01/06 09:00 [medline]
PHST- 2004/07/22 05:00 [entrez]
AID - 10.1002/ajmg.a.30170 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2004 Aug 15;129A(1):1-7. doi: 10.1002/ajmg.a.30170.