Delayed and Precocious Puberty: Genetic Underpinnings and Treatments

被引：14

作者：

Gohil, Anisha ^{[1
]}

Eugster, Erica A. ^{[1
]}

机构：

[1] Indiana Univ Sch Med, Riley Hosp Children, Dept Pediat, Div Pediat EndocrinolIU Hlth, 705 Riley Hosp Dr,Room 5960, Indianapolis, IN 46202 USA

来源：

ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA | 2020年 / 49卷 / 04期

关键词：

Delayed puberty; Hypogonadotropic hypogonadism; Hypergonadotropic hypogonadism; Central precocious puberty; Peripheral precocious puberty; LUTEINIZING-HORMONE-RECEPTOR; MCCUNE-ALBRIGHT-SYNDROME; KLINEFELTER-SYNDROME; PHENOTYPIC SPECTRUM; OVARIAN-FUNCTION; BETA-SUBUNIT; MUTATIONS; HYPOGONADISM; GIRLS; WOMEN;

D O I：

10.1016/j.ecl.2020.08.002

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Delayed puberty may signify a common variation of normal development, or indicate the presence of a pathologic process. Constitutional delay of growth and puberty is a strongly familial type of developmental pattern and accounts for the vast majority of children who are "late bloomers." Individuals with sex chromosomal abnormalities frequently have hypergonadotropic hypogonadism. There are currently 4 known monogenic causes of central precocious puberty. The primary treatment goal in children with hypogonadism is to mimic normal pubertal progression, while the primary aims for the management of precocious puberty are preservation of height potential and prevention of further pubertal development.

引用

页码：741 / +

页数：18

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