ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY (CAH)

Question 1

What is  ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY (CAH)?

Accepted Answer

1:500 - 1:5000
autosomal recessive
mutation in the CYP21A2 gene
simple virilizing form - salt loosing form - attenuated form

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Nebennierenhyperplasie, kongenitale, durch 21-Hydroxylase-Mangel, klassische Form

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 201910

Question 4

Which enzymes are involved?

Accepted Answer

steroid 21-hydroxylase

Disease	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY (CAH)
Synonym	ADRENAL HYPERPLASIA III; STEROID 21-HYDROXYLASE DEFICIENCY
OMIM	201910 OMIM = Online Mendelian Inheritance of Men
Orphanet	90794
Protein (UniProt)	steroid 21-hydroxylase
ExPASy	1.14.99.10
Gene locus	6p21.33 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Cytochrome P450, subfamily XXIA, polypeptide 2 (steroid 21-hydroxylase)
ICD	E25.00
Summary	1:500 - 1:5000 autosomal recessive mutation in the CYP21A2 gene simple virilizing form - salt loosing form - attenuated form
Laboratory findings	17-Hydroxyprogesterone inc (plasma) 17-Ketosteroids inc (plasma) 17-Ketosteroids inc (urine) Potassium inc (serum) 17-Hydroxyprogesterone inc (urine) Adrenocorticotropic hormone (ACTH) inc (plasma) Aldosterone decreased (plasma) Dehydroepiandrosterone (DHEA) inc (plasma) Progesterone inc (plasma) Renin activity (PRA) or renin inc (plasma) Sodium dec (serum) 21-Deoxycortisol inc (plasma) Androstenedione inc (plasma) Cortisol dec (serum) D-Glucose dec (serum) pH inc (blood) Pregnanediol inc (urine)
Symptoms	short stature masculinisation of the female adrenal hyperplasia genitalia, ambigous clitoral hypertrophy dehydration hyperkalemia virilisation diarrhea ECG abnormalities [-] fever hyperpigmentation hypoglycemia hypotonia metabolic alkalosis onset, adolescent onset, adulthood onset, childhood onset, infancy onset, neonatal ultrasound, abdominal, abnormal vomiting