Journalartikel

Jahr der Veröffentlichung: 2002

Seiten: 1052-1056

Zeitschrift: The Journal of Clinical Endocrinology & Metabolism

Bandnummer: 87

Heftnummer: 3

ISSN: 0021-972X

eISSN: 1945-7197

DOI Link: https://doi.org/10.1210/jc.87.3.1052

Verlag: Oxford University Press

Abstract: 

We describe the clinical features of severe sexual precocity in a 3.5-yr-old boy. Hormonal evaluation showed LH-independent T hypersecretion. Initial examination of the adrenals and testes revealed no evidence of congenital adrenal hyperplasia, hCG- or androgen-secreting tumors, or McCune-Albright syndrome. In the coding sequence of the LH receptor gene no activating mutation was found. Spironolactone (5.7 mg/kg.d) and testolactone (40 mg/kg.d) were unsuccessful in suppressing the elevated concentration of T. To further determine the origin of the elevated serum T, a selective venous sampling procedure was planned. However before the sampling procedure, high resolution ultrasound examination showed a small tumor in the left testis, which was removed. Histology proved the tumor to be a Leydig cell adenoma. Sequencing of the tumor LH receptor gene revealed a heterozygous mutation in exon 11 encoding a replacement of aspartic acid at position 578 with histidine, which has been shown to be a constitutively activating mutation.

These findings indicate that in male patients with gonadotropin-independent sexual precocity, the presence of small testicular Leydig cell tumors harboring a somatic mutation of the LH receptor gene should be considered.

Harvard-Zitierstil: Richter-Unruh, A., Wessels, H., Menken, U., Bergmann, M., Schmittmann-Ohters, K., Schaper, J., et al. (2002) Male LH-independent sexual precocity in a 3.5-year-old boy caused by a somatic activating mutation of the LH receptor in a Leydig cell tumor, The Journal of Clinical Endocrinology & Metabolism, 87(3), pp. 1052-1056. https://doi.org/10.1210/jc.87.3.1052

APA-Zitierstil: Richter-Unruh, A., Wessels, H., Menken, U., Bergmann, M., Schmittmann-Ohters, K., Schaper, J., Tappeser, S., & Hauffa, B. (2002). Male LH-independent sexual precocity in a 3.5-year-old boy caused by a somatic activating mutation of the LH receptor in a Leydig cell tumor. The Journal of Clinical Endocrinology & Metabolism. 87(3), 1052-1056. https://doi.org/10.1210/jc.87.3.1052