Journal article

Publication year: 1999

Pages: 1628-1632

Journal: The Journal of Clinical Endocrinology & Metabolism

Volume number: 84

Issue number: 5

ISSN: 0021-972X

eISSN: 1945-7197

DOI Link: https://doi.org/10.1210/jc.84.5.1628

Publisher: Oxford University Press

Abstract: 

Mutations in the steroidogenic acute regulatory protein (StAR) gene cause congenital Lipoid adrenal hyperplasia, characterized by diminished or absence of adrenal and gonadal steroids, resulting in severe adrenal insufficiency and ambiguous or complete female external genitalia in genetic males.

We report on a 15-yr-old 46,XY phenotypic female, referred because of lack of pubertal development. ACTH and gonadotropin concentrations were elevated; and aldosterone, cortisol and its precursors, and sex steroids before and after stimulation were below the lower limit of detection. In the StAR gene, a homozygous nonsense mutation (TGG --> TAG) in exon 7 (W250X) was identified. Histologic examination after gonadectomy showed seminiferous tubules containing immature Sertoli cells and a few single germ cells with positive placental-like alkaline phosphatase immunoreactivity, indicating carcinoma in situ.

This is the first report on testicular morphology, at a pubertal age, in a female patient with 46,XY karyotype and a mutation in the StAR gene, in whom gonadal neoplasia had developed.

Harvard Citation style: Korsch, E., Peter, M., Hiort, O., Sippell, W., Ure, B., Hauffa, B., et al. (1999) Gonadal histology with testicular carcinoma in situ in a 15-year-old 46,XY female patient with a premature termination is the steroidogenic acute regulatory protein causing congenital lipoid adrenal hyperplasia, The Journal of Clinical Endocrinology & Metabolism, 84(5), pp. 1628-1632. https://doi.org/10.1210/jc.84.5.1628

APA Citation style: Korsch, E., Peter, M., Hiort, O., Sippell, W., Ure, B., Hauffa, B., & Bergmann, M. (1999). Gonadal histology with testicular carcinoma in situ in a 15-year-old 46,XY female patient with a premature termination is the steroidogenic acute regulatory protein causing congenital lipoid adrenal hyperplasia. The Journal of Clinical Endocrinology & Metabolism. 84(5), 1628-1632. https://doi.org/10.1210/jc.84.5.1628