Phenotypic features of 46, XX females with StAR protein mutations

Amrit Bhangoo, Erkan Buyuk, Kutluk Oktay, Svetlana Ten

Research output: Contribution to journalReview articlepeer-review

21 Scopus citations


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. Design: 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 ( 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.

Original languageEnglish
Pages (from-to)633-641
Number of pages9
JournalPediatric Endocrinology Reviews
Issue number2
StatePublished - Dec 2007
Externally publishedYes


  • Gonadal development
  • Irregular periods
  • Lipoid CAH
  • Lipoid accumulation
  • Menopause
  • Ovarian cysts
  • StAR
  • Steroidogenesis


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