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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.)

A boy with Prader-Willi syndrome: unmasking precocious puberty during growth hormone replacement therapy

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Author(s):
Ludwig, Natasha G. ; Radaeli, Rafael F. ; da Silva, Mariana M. X. ; Romero, Camila M. ; Carrilho, Alexandre J. F. ; Bessa, Danielle ; Macedo, Delanie B. ; de Oliveira, Maria L. ; Latronico, Ana Claudia ; Mazzuco, Tania L.
Total Authors: 10
Document type: Journal article
Source: ARCHIVES OF ENDOCRINOLOGY METABOLISM; v. 60, n. 6, p. 596-600, NOV-DEC 2016.
Web of Science Citations: 1
Abstract

SUMMARY Prader-Willi syndrome (PWS) is a genetic disorder frequently characterized by obesity, growth hormone deficiency, genital abnormalities, and hypogonadotropic hypogonadism. Incomplete or delayed pubertal development as well as premature adrenarche are usually found in PWS, whereas central precocious puberty (CPP) is very rare. This study aimed to report the clinical and biochemical follow-up of a PWS boy with CPP and to discuss the management of pubertal growth. By the age of 6, he had obesity, short stature, and many clinical criteria of PWS diagnosis, which was confirmed by DNA methylation test. Therapy with recombinant human growth hormone (rhGH) replacement (0.15 IU/kg/day) was started. Later, he presented psychomotor agitation, aggressive behavior, and increased testicular volume. Laboratory analyses were consistent with the diagnosis of CPP (gonadorelin-stimulated LH peak 15.8 IU/L, testosterone 54.7 ng/dL). The patient was then treated with gonadotropin-releasing hormone analog (GnRHa). Hypothalamic dysfunctions have been implicated in hormonal disturbances related to pubertal development, but no morphologic abnormalities were detected in the present case. Additional methylation analysis (MS-MLPA) of the chromosome 15q11 locus confirmed PWS diagnosis. We presented the fifth case of CPP in a genetically-confirmed PWS male. Combined therapy with GnRHa and rhGH may be beneficial in this rare condition of precocious pubertal development in PWS. (AU)

FAPESP's process: 13/06391-1 - New perspectives of the genetic study of idiopathic central precocious puberty
Grantee:Francisca Delanie Bulcão de Macêdo
Support Opportunities: Scholarships in Brazil - Doctorate (Direct)