This Article Full Text Full Text (PDF) Submit a related Letter to the Editor Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Request Copyright Permission Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Korsch, E. Articles by Bergmann, M. Search for Related Content PubMed PubMed Citation Articles by Korsch, E. Articles by Bergmann, M.

Gonadal Histology with Testicular Carcinoma in Situ in a 15-Year-Old 46,XY Female Patient with a Premature Termination in the Steroidogenic Acute Regulatory Protein Causing Congenital Lipoid Adrenal Hyperplasia

Department of Pediatrics (E.K.), Childrens Hospital of Cologne, D-50735 Cologne; Department of Pediatric Endocrinology (M.P., W.G.S.), University of Kiel; Department of Pediatric Endocrinology (O.H.), University of Lübeck; Department of Pediatric Surgery (B.M.U.), Childrens Hospital of Cologne; Department of Pediatric Hematology/Oncology and Endocrinology (B.P.H.), University of Essen; and Department of Veterinary Anatomy (M.B.), University of Giessen, Germany

Address all correspondence and requests for reprints to: Eckhard Korsch, M.D., Department of Pediatrics, Childrens Hospital of Cologne, Amsterdamerstrasse 59, D-50735 Cologne, Germany.

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.

This article has been cited by other articles:

				L. A. Metherell, D. Naville, G. Halaby, M. Begeot, A. Huebner, G. Nurnberg, P. Nurnberg, J. Green, J. W. Tomlinson, N. P. Krone, et al. Nonclassic Lipoid Congenital Adrenal Hyperplasia Masquerading as Familial Glucocorticoid Deficiency J. Clin. Endocrinol. Metab., October 1, 2009; 94(10): 3865 - 3871. [Abstract] [Full Text] [PDF]

				M. Abdulhadi-Atwan, A. Jean, W. K. Chung, K. Meir, Z. Ben Neriah, G. Stratigopoulos, S. E. Oberfield, I. Fennoy, H. J. Hirsch, A. Bhangoo, 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., October 1, 2007; 92(10): 4000 - 4008. [Abstract] [Full Text] [PDF]

				A. Bhangoo, W.-X. Gu, S. Pavlakis, H. Anhalt, L. Heier, S. Ten, and J. L. Jameson Phenotypic Features Associated with Mutations in Steroidogenic Acute Regulatory Protein J. Clin. Endocrinol. Metab., November 1, 2005; 90(11): 6303 - 6309. [Abstract] [Full Text] [PDF]

				X. Chen, B. Y. Baker, M. A. Abduljabbar, and W. L. Miller A Genetic Isolate of Congenital Lipoid Adrenal Hyperplasia with Atypical Clinical Findings J. Clin. Endocrinol. Metab., February 1, 2005; 90(2): 835 - 840. [Abstract] [Full Text] [PDF]

				H. S. Bose, S. Sato, J. Aisenberg, S. A. Shalev, N. Matsuo, and W. L. Miller Mutations in the Steroidogenic Acute Regulatory Protein (StAR) in Six Patients with Congenital Lipoid Adrenal Hyperplasia J. Clin. Endocrinol. Metab., October 1, 2000; 85(10): 3636 - 3639. [Abstract] [Full Text]