LIPOID ADRENAL HYPERPLASIA (StAR DEFICIENCY)

Question 1

What is  LIPOID ADRENAL HYPERPLASIA (StAR DEFICIENCY)?

Accepted Answer

rare
autosomal recessive
female external genitalia regardless genetic sex

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Nebennierenhyperplasie, kongenitale lipoide, durch STAR-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 201710

Question 4

Which enzymes are involved?

Accepted Answer

Steroidogenic acute regulatory protein, mitochondrial

Disease	LIPOID ADRENAL HYPERPLASIA (StAR DEFICIENCY)
Synonym	LCAH;
OMIM	201710 OMIM = Online Mendelian Inheritance of Men
Orphanet	90790
Protein (UniProt)	Steroidogenic acute regulatory protein, mitochondrial
Gene locus	8p11.23
ICD	E25.08
Summary	rare autosomal recessive female external genitalia regardless genetic sex
Laboratory findings	17-Hydroxyprogesterone dec (plasma) Adrenocorticotropic hormone (ACTH) inc (plasma) Androstenedione dec (plasma) Corticosterone dec (plasma) Cortisol dec (plasma) Dehydroepiandrosterone (DHEA) dec (plasma) Deoxycorticosterone (DOC) dec (plasma) Potassium inc (serum) Sodium dec (serum) Steroids dec (urine) Steroids dec (plasma)
Symptoms	adrenal hyperplasia cryptorchism dehydration early death genitalia, ambigous hyperkalemia hypospadia metabolic alkalosis onset, infancy onset, neonatal polycystic ovaries puberty, delayed or missing testes, undescended vomiting