ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE

Question 1

What is  ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE?

Accepted Answer

rare
autosomal resive
autsomal dominant
mutation in the CYP11A1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Nebenniereninsuffizienz, durch CYP11A1-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 613743

Question 4

Which enzymes are involved?

Accepted Answer

Cholesterol side-chain cleavage enzyme, mitochondrial

Disease	ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE
Synonym	P450scc DEFICIENCY
OMIM	613743 OMIM = Online Mendelian Inheritance of Men
Orphanet	168558
Protein (UniProt)	Cholesterol side-chain cleavage enzyme, mitochondrial
Gene locus	15q24.1
ICD	Q56.1
Summary	rare autosomal resive autsomal dominant mutation in the CYP11A1 gene
Laboratory findings	Potassium inc (serum) Sodium dec (serum)
Symptoms	adrenal hyperplasia adrenal insufficiency cryptorchism genitalia, ambigous hyperkalemia onset, childhood onset, infancy