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Monai E, Johansen A, Clasen-Linde E, et al. CENTRAL PRECOCIOUS PUBERTY IN TWO BOYS WITH PRADER-WILLI SYNDROME ON GROWTH HORMONE TREATMENT. AACE Clin Case Rep. 2019;5(6):e352-e356doi: 10.4158/ACCR-2019-0245.
Monai, E., Johansen, A., Clasen-Linde, E., Rajpert-De Meyts, E., Skakkebæk, N. E., Main, K. M., Jørgensen, A., & Jensen, R. B. (2019). CENTRAL PRECOCIOUS PUBERTY IN TWO BOYS WITH PRADER-WILLI SYNDROME ON GROWTH HORMONE TREATMENT. AACE clinical case reports, 5(6), e352-e356. https://doi.org/10.4158/ACCR-2019-0245
Monai, Elena, et al. "CENTRAL PRECOCIOUS PUBERTY IN TWO BOYS WITH PRADER-WILLI SYNDROME ON GROWTH HORMONE TREATMENT." AACE clinical case reports vol. 5,6 (2019): e352-e356. doi: https://doi.org/10.4158/ACCR-2019-0245
Monai E, Johansen A, Clasen-Linde E, Rajpert-De Meyts E, Skakkebæk NE, Main KM, Jørgensen A, Jensen RB. CENTRAL PRECOCIOUS PUBERTY IN TWO BOYS WITH PRADER-WILLI SYNDROME ON GROWTH HORMONE TREATMENT. AACE Clin Case Rep. 2019 Aug 15;5(6):e352-e356. doi: 10.4158/ACCR-2019-0245. eCollection 2019. PMID: 31967069; PMCID: PMC6873836.
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AACE Clin Case Rep. 2019 Aug 15;5(6):e352-e356. doi: 10.4158/ACCR-2019-0245. eCollection 2019.

CENTRAL PRECOCIOUS PUBERTY IN TWO BOYS WITH PRADER-WILLI SYNDROME ON GROWTH HORMONE TREATMENT.

AACE clinical case reports

Elena Monai, Anders Johansen, Erik Clasen-Linde, Ewa Rajpert-De Meyts, Niels Erik Skakkebæk, Katharina M Main, Anne Jørgensen, Rikke Beck Jensen

PMID: 31967069 PMCID: PMC6873836 DOI: 10.4158/ACCR-2019-0245

Abstract

OBJECTIVE: Prader-Willi syndrome (PWS) is a rare genetic neuroendocrine disorder characterized by hypotonia, obesity, short stature, and mental retardation. Incomplete or delayed pubertal development as well as premature adrenarche are usually found in PWS, whereas central precocious puberty is rarely seen.

METHODS: This study reports the clinical, biochemical, and histologic findings in 2 boys with PWS who developed central precocious puberty.

RESULTS: Both boys were started on growth hormone therapy during the first years of life according to the PWS indication. They had both bilateral cryptorchidism at birth and had orchidopexy in early childhood. Retrospective histologic analysis of testicular biopsies demonstrated largely normal tissue architecture and germ cell maturation, but severely decreased number of prespermatogonia in one of the patients. Both boys had premature adrenarche around the age of 6. Precocious puberty was diagnosed in both boys with enlargement of testicular volume (>3 mL), signs of virilization and a pubertal response to a gonadotropin-releasing hormone (GnRH) test and they were both treated with GnRH analog.

CONCLUSION: The cases described here displayed typical characteristics for PWS, a considerable heterogeneity of the hypothalamic-pituitary function, as well as testicular histology. Central precocious puberty is extremely rare in PWS boys, but growth hormone treatment may play a role in the pubertal timing.

Copyright © 2019 AACE.

Conflict of interest statement

DISCLOSURE The authors have no multiplicity of interest to disclose.

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