Phenotypic features of 46, XX females with StAR protein mutations.
OBJECTIVE
To understand the basis of the phenotypic variations of 46, XX girls with mutations in the gene for Steroidogenic Acute Regulatory (StAR) Protein. The patients with mutation in both the alleles of the StAR gene result in deficiency of all the steroidal hormones and severe adrenal insufficiency. The majority of the 46, XX females spontaneously undergo puberty but the underlying defect ultimately leads to the development of ovarian cysts and premature menopause. The mechanism of the lesion in the ovary remains to be understood completely.


METHODS
We compiled the description of the clinical information and biochemical data of patients with StAR mutation from published manuscripts. These articles were collected from the NCBI website (www.pubmed.org) and from the subsequent reference searches of retrieved articles. The data of the 46,XX patients with proven StAR mutation were included for the review.


RESULTS
The majority of StAR 46,XX females developed irregular menses and ovarian cysts. The ovarian cyst enlargement progressively led to torsion and presented as a life-threatening emergency. The fertility of 46,XX StAR patients is severely compromised as ultimately premature menopause ensued.


CONCLUSIONS
Early hormonal replacement is warranted to prevent the progressive ovarian cyst formation. Newer techniques to preserve the fertility of these patients can be implied early in the pubertal developmental process if patients desire pregnancy.
Bhangoo
Amrit
A
Pediatric Endocrinology Division of Infant's and Children's Hospital of Brooklyn at Maimonides, Brooklyn, NY 11219, USA.
Buyuk
Erkan
E
Oktay
Kutluk
K
Ten
Svetlana
S
D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics; D002648:Child; D015914:Estrogen Replacement Therapy; D005260:Female; D005298:Fertility; D006801:Humans; D008594:Menopause, Premature / Q000235:genetics; D008597:Menstrual Cycle; D009154:Mutation; D010048:Ovarian Cysts / Q000235:genetics; D010641:Phenotype; D010750:Phosphoproteins / Q000235:genetics*; D011374:Progesterone / Q000008:administration & dosage; D011627:Puberty / Q000235:genetics; D000098682:Steroidogenic Acute Regulatory Protein
D010750:Phosphoproteins; D000098682:Steroidogenic Acute Regulatory Protein; D011374:Progesterone