Etiological distribution of patients who applied to pediatric endocrinology policlinic due to delayed puberty

ABSTRACT: A total of 112 children with delayed puberty (13-20 years old, mean 15.53 ± 1.68 years, 54 male (48.2%) , 58 female (51.8% ) admitted to the Pediatric Endocrinology Polyclinic of Çukurova University Faculty of Medicine between January 1, 2008 and January 1, 2011 were included in the study. Delayed Puberty diagnosis is defined as breast development has not yet started despite the age of 13 (Tanner Stage I). In boys,it was defined as having a testicular volume below 4 ml (Tanner Stage I) even though he was over the age of 14. Values below 2 IU / ml for FSH and LH are prepubertal, below 20 ng / dl (714 pmol / L) for testosteron , and less than 1.9 ng / dl (73 pmol / L) for E2. was considered as prepubertal. Ninety of the cases (80.4 %, 48 male (53.3%), 42 female (46.7%) were hypogonadotropic hypogonadism and 22 (19.6% of cases) of them had hypergonadotropic hypogonadism(6 cases were male (27.3 %), 16 cases were female (72.7 %) Patients with Hypogonadotropic Hypogonadism were divided into three groups as Isolated Permanent Hypogonadotropic Hypogonadism, Structural Growth Retardation and Delayed Puberty and Functional Hypogonadotropic Hypogonadism (Accompanying Chronic Disease). When all cases were evaluated, in 42(37.5%) of 112 patients as permanent hypogonadotropic hypogonadism (normosmic idiopathic hypogonadotropic hypogonadism was found in 18 cases, TACR3 mutation was found in 3 of these 18 cases). , structural growth retardation and delayed puberty was found in 19 cases (16.96%). Functional hypogonadotropic hypogonadism in 29 cases (25.89%), and hypergonadotropic hypogonadism was detected in 22 cases (19.6%). Contrary to most of the studies in the literature, we found the most common etiological cause of delayed puberty as persistent idiopathic hypogonadotropic hypogonadism and Functional hypogonadotropic hypogonadism as the second most common cause. Considering that most of the cases with Structural Growth Retardation and Delayed Puberty are male, it can be concluded that it is due to testosterone replacement for the purpose of puberty induction by urologists in external centers, and also that our unit is a reference center investigating genetic causes in terms of hypogonadotropic hypogonadism and that hypogonadism patients are referred to our center for genetic examination. The only limitation of our study is that, because of its retrospective nature, inhibin B and anti-mullerian hormone levels, which are reported in the current literature, which are used to distinguish between Structural Growth Retardation and Delayed Puberty and Hypogonadotrophic Hypogonadism were not examined in patients, and this information could not be obtained from the patient files.