Saenger P, Klonari Z, Black SM, Compagnone N, Mellon SH, Fleischer A, Abrams CA, Shackelton CH, Miller WL
J Clin Endocrinol Metab 1995 Jan;80(1):200-5. doi: 10.1210/jcem.80.1.7829612. PMID: 7829612

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Recent clinical studies

Etiology

Role of steroid sulfatase in steroid homeostasis and characterization of the sulfated steroid pathway: Evidence from steroid sulfatase deficiency.

Sánchez-Guijo A, Neunzig J, Gerber A, Oji V, Hartmann MF, Schuppe HC, Traupe H, Bernhardt R, Wudy SA
Mol Cell Endocrinol 2016 Dec 5;437:142-153. Epub 2016 Aug 13 doi: 10.1016/j.mce.2016.08.019. PMID: 27531568

3 beta-hydroxysteroid dehydrogenase deficiency in hyperandrogenism.

Azziz R, Bradley EL Jr, Potter HD, Boots LR
Am J Obstet Gynecol 1993 Mar;168(3 Pt 1):889-95. doi: 10.1016/s0002-9378(12)90840-6. PMID: 8456898

Regulation of serum testosterone in men with steroid sulfatase deficiency: response to human chorionic gonadotropin.

Ruokonen A, Oikarinen A, Vihko R
J Steroid Biochem 1986 Jul;25(1):113-9. doi: 10.1016/0022-4731(86)90289-x. PMID: 3462435

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Diagnosis

Apparent pregnene hydroxylation deficiency (APHD): seeking the parentage of an orphan metabolome.

Shackleton C, Malunowicz E
Steroids 2003 Oct;68(9):707-17. doi: 10.1016/s0039-128x(03)00115-6. PMID: 14625002

Prenatal diagnosis of congenital lipoid adrenal hyperplasia.

Saenger P, Klonari Z, Black SM, Compagnone N, Mellon SH, Fleischer A, Abrams CA, Shackelton CH, Miller WL
J Clin Endocrinol Metab 1995 Jan;80(1):200-5. doi: 10.1210/jcem.80.1.7829612. PMID: 7829612

A syndrome of female pseudohermaphrodism, hypergonadotropic hypogonadism, and multicystic ovaries associated with missense mutations in the gene encoding aromatase (P450arom).

Conte FA, Grumbach MM, Ito Y, Fisher CR, Simpson ER
J Clin Endocrinol Metab 1994 Jun;78(6):1287-92. doi: 10.1210/jcem.78.6.8200927. PMID: 8200927

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