ESPE Abstracts (2014) 82 P-D-2-3-557

Mutational Analysis of TAC and TACR3 in Idiopathic Central Precocious Puberty

Marina Krstevska-Konstantinovaa, Jana Jovanovskaa, Nevenka Slaveskaa, Velibor Tasika, Luciana Ribeiro Montenegrob, Daiane Beneduzzib, Leticia Gontijo Silveirab & Zoran Guceva

aPediatric Clinic, Skopje, Macedonia; bUnidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular, Sao Paolo, Brazil

Background: The genetic background of idiopathic central precocious puberty (ICPP) is not well understood. The genetic activation of pubertal onset is thought to arise from the effect of multiple genes. Familial ICPP have been reported suggesting the existence of monogenic causes of ICPP. The neurokinin B (NKB) system has recently been implicated in the regulation of the human reproductive axis, but how NKB system exerts its effects on the central neuroendocrine control of human reproduction remains unknown. In humans, NKB and its receptor are encoded by the TAC3 and TACR3 genes, respectively. Mutations in these genes have been suggested to be causative for ICPP.

Method: ICPP was defined by pubertal onset before 8 years of age in girls, and a pubertal LH response to GnRH testing. Twenty-eight girls with ICPP were included in the study (age at diagnosis was 5. 72±2. 59; bone age, 6. 12±2. 81, height at the start of treatment, 0. 90±1. 48 S.D.). LHRH test was performed and was pubertal in all subjects (LH 20. 35±32.37 mIU/ml; FSH 23.32±15.72 mIU/ml). The coding regions of TAC and TACR3 were sequenced.

Results: No rare variants were detected in TAC and TACR3 in the 28 subjects with ICPP.

Conclusion: We confirmed that mutations in TAC and TACR3 are not a common cause for ICPP.

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