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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Spontaneous fertility in a male patient with testotoxicosis despite suppression of FSH levels

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Cunha-Silva, M. [1] ; Brito, V. N. [1] ; Macedo, D. B. [1] ; Bessa, D. S. [1] ; Ramos, C. O. [1] ; Lima, L. G. [1] ; Barroso, P. S. [1] ; Arnhold, I. J. P. [1] ; Segaloff, D. L. [2] ; Mendonca, B. B. [1] ; Latronico, A. C. [1]
Total Authors: 11
[1] Univ Sao Paulo, Hosp Clin, Fac Med, Disciplina Endocrinol & Metab, Lab Hormonios & Genet Mol LIM 42, Unidade Endocrin, Sao Paulo - Brazil
[2] Univ Iowa, Carver Coll Med, Dept Mol Physiol & Biophys, Iowa City, IA - USA
Total Affiliations: 2
Document type: Journal article
Source: Human Reproduction; v. 33, n. 5, p. 914-918, MAY 2018.
Web of Science Citations: 1

Testotoxicosis is a rare cause of peripheral precocious puberty in boys caused by constitutively activating mutations of the LHCG receptor. Affected males usually have normal gonadotropin profiles and fertility in their adult life. Here, we described the long-term follow-up of a 24-year-old young man with severe testotoxicosis due to a de novo activating mutation in the third transmembrane helix of the LHCGR (p. Leu457Arg). This patient was treated with different medications, including medroxyprogesterone acetate, ketoconazole, cyproterone acetate and aromatase inhibitor from age 2.5 to 9.5 years. His basal and GnRH-stimulated gonadotropin levels were continually suppressed during and after medical treatment. At adulthood, extremely high serum testosterone levels (>35 nmol/L), undetectable gonadotropin levels (LH < 0.15 IU/L and FSH < 0.6 IU/L) and oligozoospermia were evidenced. Despite his suppressed FSH levels and an unfavorable spermogram, the patient fathered a healthy girl and biological paternity was confirmed through analysis of microsatellites. Spontaneous fertility in a young man with severe testotoxicosis and chronic suppression of FSH levels reinforces the key role of high intratesticular testosterone levels in human spermatogenesis. (AU)

FAPESP's process: 13/03236-5 - New approaches and methodologies in molecular-genetic studies of growth and pubertal development disorders
Grantee:Alexander Augusto de Lima Jorge
Support type: Research Projects - Thematic Grants