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Summary
LIPOID ADRENAL HYPERPLASIA (StAR DEFICIENCY)
ADRENAL HYPERPLASIA I STEROID 20-22 DESMOLASE DEFICIENCY
201710
OMIM = Online Medalian Inheritance of Men
418
15q23-q24, 8p11.2
  • corticosteroids
  • mineralocorticoid
  • sodium chloride
rare autosomal recessive female external genitalia regardless genetic sex
symptoms
dehydration
early death
genitalia, ambigous
hypospadia
metabolic alkalosis
testes, undescended
vomiting
laboratory finding
Potassium 3.905.90increasedserum
Sodium 134.00146.00decreasedserum
Adrenocorticotropic hormone (ACTH) 4.4022.20increasedplasma
Steroids decreasedplasma
Steroids0.000.00 decreasedurineno data
17-Hydroxy-Progesteron decreasedplasma
Dehydroepiandrosterone (DHEA) decreasedplasma
Androstendione decreasedplasma
Deoxycorticosterone (DOC) decreasedplasma
Corticosterone decreasedplasma
Cortisol decreasedplasma
Literature
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Duran MBaumgartner ER, Sourmala TM, Bruinvis L, Dorland L, Smeitink JAM, Poll-The BTCerebrospinal fluid organic acids in Biotinidase deficiencyJ Inherit Metab Dis160513-5161993
Le Stunff Cet al.The insulin gene VNTR is associated with fasting insulin levels and development of juvenile obesityGenet260444-4462000
Martin MGet al.Defects in Na+/glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorptionNat Genet120216-2201996
Wang Det al.Mutational analysis of GLUT1 (SLC2A1) in glut-1 deficiency syndromeHum Mutat160224-2312000
Melanconet al.Dicarboxylic aminoaciduria: an inborn error of amino acid conservationJ Pediatr910422-4271977
Gardner RJet al.An imprinted locus associated with transient neonatal diabetes mellitusHum Mol Genet94589-5962000
Zonanaet al.Familial neonatal and infantile seizures: an autosomal-dominant disorderAm J Med Genet180455-4591984