Central precocious puberty occurring in Bardet‑Biedl syndrome‑10 as a method for self‑protection of human reproductive function: A case report

Abstract

Hypogonadism and obesity are primary features of Bardet-Biedl syndrome (BBS). Obesity is also an associated factor of central precocious puberty (CPP). The present report describes the case of a girl (age, 7 years and 6 months), with clinical manifestations of precocious puberty, progressive obesity, postaxial polydactyly, retinal degeneration and intellectual disability. The patient visited the clinic for the first time due to early breast development and progressive obesity. After 8 months of follow-up, the bone age had advanced almost 3 years, and the gonadotropin-releasing hormone (GnRH) stimulation test showed results that had changed from indicating pseudo precocious puberty to CPP. Whole-exome gene sequencing showed that there were two heterozygous mutations in the BBS type 10 (BBS10) gene, chr12:76739816(c.1949del) and chr12:76740374(c.1391C>G). The final diagnosis was of BBS10 and CPP. In order to protect the reproductive capacity of the patient, GnRH analogs were used for CPP treatment. After 15 months of treatment and follow-up, a physical examination revealed Tanner breast stage 1. Ultrasonography showed that the uterus and ovaries had reduced to their prepubertal size. In conclusion, the present report describes a case of CPP that occurred in a young girl with BBS10. We hypothesize that this was a prelude to gonad dysplasia, acting as a method for the self-protection of human reproductive function. However, more clinical data and molecular biological evidence are required to confirm the etiology and mechanism of this case.

Review of the phenotypes and genotypes of Bardet-Biedl syndrome from China

“…Polycystic ovary syndrome, hydrometrocolpos and vaginal dysplasia, which were reported by Mujahid et al (2018) , were reported only in one patient, respectively ( Hou, 2004 ; Meng et al, 2021 ). Notably, precocious puberty was reported in 2 patients (including central precocious puberty in one patient) ( Li et al, 2022a ; Li et al, 2022b ).…”

“…Among 10 BBS10 patients ( Lin et al, 2018 ; Wang et al, 2018 ; Tao et al, 2020 ; Liu et al, 2021 ; Li et al, 2022a ; Li et al, 2022b ; Dong et al, 2022 ; Lu et al, 2022 ; Tao et al, 2022 ; Yan et al, 2022 ), 7 had compound heterozygous variants and 3 had homozygous variants. A total of 11 variants were also reported.…”

“…The heterozygous variants c.1278A>G (p. Glu426Glu) and c.2059C+1G>C splicing variant were reported in 2 patients from one and 2 families, respectively. Other Among 10 BBS10 patients (Lin et al, 2018;Wang et al, 2018;Tao et al, 2020;Liu et al, 2021;Li et al, 2022a;Li et al, 2022b;Dong et al, 2022;Lu et al, 2022;Tao et al, 2022;, 7 had compound heterozygous variants and 3 had homozygous variants. A total of 11 variants were also reported.…”