1. Niranjan U, Natarajan A. Congenital adrenal hyperplasia in children – a survey on the current practice in the UK. JPEM 2015; 28 (7–8): 847–851.
2. Bens S, Mohn A, Yuksel B, et al. Congenital lipoid adrenal hyperplasia: Functional characterization of three novel mutations in the StAR gene. J Clin Endocrinol Metab 2010; 95: 1301–1308.
3. Kim CJ. Congenital lipoid adrenal hyperplasia. Ann Pediatr Endocrinol Metab 2014; 19 (4): 179–183.
4. Tee MK, Abramsohn M, Loewenthal N, et al. Varied clinical presentations of seven patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc. J Clin Endocrinol Metab 2013; 98: 713–720.
5. Gucev ZS, Tee MK, Chitayat D, et al. Distinguishing deficiencies in the steroidogenic acute regulatory protein and the cholesterol side chain cleavage enzyme causing neonatal adrenal failure. J Pediatr 2013; 162: 819–822.
6. Prader A, Gurtner HP. The syndrome of male pseudohermaphroditism in congenital adrenocortical hyperplasia without overproduction of androgens (adrenal male pseudohermaphroditism). Helv Paed Acta 1955; 10: 397–412.
7. Lin D, Sugawara T, Strauss III JF, et al. Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis. Science 1995; 267: 1828–1831.
8. Bose HS, Sugawara T, Strauss III JF, et al. The phatophysiology and genetics of congenital lipoid adrenal hyperplasia. N Engl J Med 1996; 335: 1870–1878.
9. Tajima T, Fujieda K, Kouda N, et al. Heterozygous mutation in the cholesterol side chain cleavage enzyme (P450scc) gene in a patient with 46, XY sex reversal and adrenal insufficiency. J Clin Endocrinol Metab 2001; 86: 3820–3825.
10. Miller WL. Steroidogenic acute regulatory protein (StAR), a novel mitochondrial cholesterol transporter. Biochim Biophys Acta 2007; 1771: 663–676.
11. Kim SO, Choi C, Kim CJ, et al. Lipoid congenital adrenal hyperplasia: pathologic features of the Testis. Urology 2010; 75 (1): 176–178.
12. Kim CJ, Lin L, Juany N, et al. Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc. J Clin Endocrinol Metab 2008; 93 (3): 696–702.
13. Baker BY, Lin L, Kim CJ, et al. Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia. J Clin Endocrinol Metab 2006; 91: 4781–4785.
14. Flück CE, Pandey AV, Dick B, et al. Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia. PLoS One 2011; 6: e20178.
15. Rubtsov P, Karmanov M, Sverdlova P, et al. A novel homozygous mutation in CYP11A1 gene is associated with late-onset adrenal insufficiency and hypospadias in 46, XY patient. J Clin Endocrinol Metab 2009; 94 (3): 936–939.
16. Sahakitrungruang T1, Tee MK, Blackett PR, et al. Partial defect in the cholesterol side chain cleavage enzyme P450scc resembling nonclassic congenital lipoid adrenal hyperplasia. J Clin Endocrinol Metab – Endocrine Research 2011; 96 (3): 792.
17. Sahakitrungruang T, Soccio RE, Lang-Muritano M, et al. Clinical, genetic and functional characterization of four patients carrying partial loss-of function mutations in the steroidogenic acute regulatory protein (StAR). J Clin Endocrinol Metab – Endocrine Research 2010; 95 (7): 3352–3359.
18. Abdulhadi-Atwan M, Jean A, Chung WK, et al. Role of a founder c.201_202delCT mutation and new phenotypic features of congenital lipoid adrenal hyperplasia in Palestinians. J Clin Endocrinol Metab 2007; 92 (10): 4000–4008.
19. Katsumata N, Ohtake M, Hojo T, et al. Compound heterozygous mutations in the cholesterol side- chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans. J Clin Endocrinol Metab 2002; 87: 3808–3813.
20. Hiort O, Holterhus PM, Werner R, et al. Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46, XY sex reversal, and severe adrenal failure. J Clin Endocrinol Metab 2005; 90: 538–541.
21. Hauffa BP, Miller WL, Grumbach MM, et al. Congenital adrenal hyperplasia due to deficient cholesterol side-chain cleavage activity (20,22 desmolase) in a patient treated for 18 years. Clin Endocrinol (Oxf) 1985; 23: 481–493.