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This version published online on August 23, 2005
Journal of Clinical Endocrinology & Metabolism, doi:10.1210/jc.2005-0434
A more recent version of this article appeared on November 1, 2005
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Submitted on February 28, 2005
Accepted on August 11, 2005

Phenotypic Features Associated with Mutations in Steroidogenic Acute Regulatory (StAR) Protein

Amrit Bhangoo, Wen-Xia Gu, Steven Pavlakis, Henry Anhalt, Linda Heier, Svetlana Ten*, and J. Larry Jameson

Pediatric Endocrinology Division of Infant's and Children's Hospital of Brooklyn at Maimonides, Brooklyn, NY; Division of Endocrinology, Metabolism and Molecular Medicine of the Northwestern University Feinberg School of Medicine, Chicago, IL; Pediatric Neurology Division of Infant's and Children's Hospital of Brooklyn at Maimonides, Brooklyn, NY; Pediatric Endocrinology Division of Saint Barnabas Medical Center, Livingston, NJ; Department of Radiology, Weill Medical College of Cornell University, New York, NY

* To whom correspondence should be addressed. E-mail: tenlana{at}aol.com.

Context: Mutations in the gene encoding steroidogenic acute regulatory (StAR) protein are the most common cause of Lipoid Congenital Adrenal Hyperplasia (Lipoid CAH), a disorder characterized by adrenal insufficiency and deficient gonadal steroid synthesis, resulting in female external genitalia in both genetic sexes.

Objective: We describe three new cases of Lipoid CAH caused by novel mutations in the StAR gene.

Patients: An XY subject of Yemeni descent presented with adrenal insufficiency and severe undervirilization. Magnetic Resonance Imaging (MRI) of the brain showed enlarged subarchnoid spaces consistent with frontal and temporal atrophy. Two XX siblings of Palestinian descent presented with neonatal adrenal insufficiency. One had a borderline Intelligence Quotient (IQ) and features of attention deficit hyperactivity disorder. MRI showed areas of supratentorial white matter lesions. In her sister, MRI revealed a Chiari-I malformation.

Results: XY subject was found to have a missense mutation (R182C). Both XX siblings had a dinucleotide deletion at nucleotides 327 328 induces a frameshift that truncates the StAR protein after 68 amino acids.

Conclusions: These cases broaden the spectrum of known StAR mutations and suggest that disorders of CNS development may arise because of StAR deficiency and/or the metabolic consequences of neonatal adrenal deficiency.
Key words: adrenal insufficiency • StAR • sex reversal • gonadal development • neurosteroids




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