ACTH DEFICIENCY, ISOLATED

Question 1

What is  ACTH DEFICIENCY, ISOLATED?

Accepted Answer

rare (33 cases in the first year of life)
autosomal recessive
mutations in the TBX19 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

ACTH-Mangel, isoliert

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 201400

Question 4

Which enzymes are involved?

Accepted Answer

T-box transcription factor TBX19

Disease	ACTH DEFICIENCY, ISOLATED
Synonym	ACTH DEFICIENCY; ADRENOCORTICOTROPIC HORMONE DEFICIENCY, ISOLATED
OMIM	201400 OMIM = Online Mendelian Inheritance of Men
Orphanet	91356
Protein (UniProt)	T-box transcription factor TBX19
Gene locus	1q24.2
ICD	E23.6
Summary	rare (33 cases in the first year of life) autosomal recessive mutations in the TBX19 gene
Laboratory findings	17-Hydroxyketosteroids [+] normal/dec (urine) 17-Ketosteroids normal/dec (urine) Adrenocorticotropic hormone (ACTH) dec (plasma) Calcium normal/inc (serum) Cortisol dec (serum) D-Glucose normal/dec (serum) Potassium inc (serum) Sodium dec (serum)
Symptoms	hypoglycemia hypotension muscle weakness nausea onset, adulthood onset, childhood vomiting weight loss