Delayed puberty overview: Difference between revisions
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==Natural History, Complications, and Prognosis== | ==Natural History, Complications, and Prognosis== | ||
The | The symptoms of [[puberty]] usually develop between 8 and 13 in girls and between 9 and 14 in boys, and start with symptom of [[breast]] development in girls and [[testicular]] enlargement in boys. If the [[testicular]] enlargement or [[breast]] development has not occurred at an mean age of [[puberty]] in population plus 2-2.5 [[Standard deviation|SD]], it will be called delayed [[puberty]]. The mean age is depend on various factors, such as [[race]], [[nutrition]], and also socioeconomic status. Recently, the [[puberty]] age is decreasing in US and other countries. The main complications of delayed puberty are [[osteoporosis]], [[psychological]] problems, [[polycythemia]], and [[irritation]] from hormonal gels and patches. The major determinant of delayed [[puberty]] [[prognosis]] is underlying [[Comorbidity|co-morbidity]], not the [[disease]] itself. [[Constitutional delay of puberty|Constitutional delay of growth and puberty (CDGP)]] has an excellent [[prognosis]]. The [[puberty]] and final height in these patients will occur normal in the future, without any [[Hormone replacement therapy|hormone replacement]]. | ||
==Diagnosis== | ==Diagnosis== | ||
===History and Symptoms=== | ===History and Symptoms=== | ||
The hallmark of delayed [[puberty]] is lack of [[testicular]] enlargement in boys or [[breast]] development in girls in specific stage of life. The age, in which [[secondary sexual characteristics]] are checked, is 2-2.5 [[Standard deviation|SD]] more than the standard population average age of [[puberty]] onset. The age is 14 for boys and 13 for girls, on average. A positive [[family history]] of delayed [[puberty]] is strongly associated with delayed [[puberty]]. The most common contributing symptom of delayed [[puberty]] is [[anosmia]] or [[hyposmia]]. Less common symptoms of delayed [[puberty]] are including the symptoms related to its underlying [[diseases]]. | |||
===Physical Examination=== | ===Physical Examination=== | ||
Revision as of 17:56, 7 September 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Puberty is described as delayed when a boy or girl has passed the usual age of onset of puberty with no physical or hormonal signs that it is beginning. Puberty may be delayed for several years and still occur normally, in which case it is considered constitutional delay, a variation of healthy physical development. Delay of puberty may also occur due to undernutrition, many forms of systemic disease, or to defects of the reproductive system (hypogonadism) or the body's responsiveness to sex hormones.
Historical Perspective
Studying the archaic humans in Pleistocene (i.e., greater than 10,000 years ago), it assumed that puberty was correlated with productivity in females. The age of menarche was between 7 and 13 years. Researchers have found that in a Turkana boy (from the species of Homo erectus) from 1.6 million years ago, the puberty was earlier than today humans; however, their final height were more than modern humans. The discovery and growth of agriculture in archaic world is the main reason of delaying puberty age, through a negative impact on child growth. Agricultural communities in contrast with hunter-gatherer communities, experienced tougher life style and rose with so many nutrition deficits; that may lead to their delayed puberty. Regarding that life style was growing and the complexity of societies were increasing in the past, the process of becoming adult from child was elongated and delayed puberty happened.
Classification
Delayed puberty is almost always due to physiologic exaggerated prolongation of puberty timing in boys, a condition called "constitutional delay of growth and puberty (CDGP)". But the disease may sometimes has another pathophysiologies, such as hypergonadotropic hypogonadism, permanent hypogonadotropic hypogonadism, and functional hypogonadotropic hypogonadism.
Pathophysiology
It is absolute that delayed puberty is the result of any disturbances in hypothalamus-pituitary-gonadal (HPG) axis. Delayed puberty has found to be on a genetic basis, most of the times. It is assumed that the main factor in determining the puberty timing is genetic elements. In case of constitutional delay of growth and puberty (CDGP), researchers suggested 50-75% of positive family history of delayed puberty. About 25 various genes, in 3 different group of Kallman syndrome related genes, hypothalamus-pituitary-gonadal (HPG) axis related genes, and obesity related genes, play roles in delayed puberty. Macroscopic pathology of delayed puberty is based on Tanner staging in specific ages. Microscopic evaluation of ovaries in a patient with delayed puberty may reveal the presence of normal cubical epithelium. The ovary has some dense fibrous tissue, about 0.4 mm thick band, in the cortex. The band is extended under the tunica albuginea, devoid of follicles. Under the fibrous band there will be numerous small follicles. These follicles consist of primordial (51%), intermediary (42%), and primary (7%) follicles.
Causes
Delayed puberty may be caused by endocrine or genetic causes. The most common endocrine causes of delayed puberty is hypothalamus-pituitary-gonadal (HPG) axis disorders. The most common genetic causes of delayed puberty is Kallmann syndrome. There are various genes that may be related to delayed puberty, among which the kisspeptin system genes (KISS1 and KISS1R) are the most important genes.
Differentiating Delayed puberty from Other Diseases
Delayed puberty must be differentiated from other diseases that cause latency in secondary sexual characteristics development, such as constitutional delay of puberty, hypopituitarism, and chromosomal abnormalities. Chromosomal abnormalities are Turner's syndrome, Klinefelter's syndrome, and Noonan's syndrome.
Epidemiology and Demographics
The incidence of delayed puberty (hypogonadotropic hypogonadism) is approximately 1-10 cases per 100,000 individuals worldwide.The precise prevalence of delayed puberty is not known completely. The whole puberty disorders prevalence is about 3000 cases per 100,000 individuals worldwide. Regarding the definition of delayed puberty, the disease commonly affects children under 15 years of age. Delayed puberty usually affects individuals of all races, equally. Definite diagnosis upon the mean age of puberty onset in any specific societies can help to reduce the effects of ethnicity on delayed puberty epidemiology. Boys are more commonly affected by delayed puberty (constitutional delay of puberty) than girls.
Risk Factors
The most potent risk factor in the development of delayed puberty is hypothalamus-pituitary-gonadal (HPG) axis disturbance. Other risk factors are including genetic, endocrinologic, and environmental; which may disturb the HPG axis.
Screening
According to the US Preventive Services Task Force (USPSTF), screening for delayed puberty is not recommended.
Natural History, Complications, and Prognosis
The symptoms of puberty usually develop between 8 and 13 in girls and between 9 and 14 in boys, and start with symptom of breast development in girls and testicular enlargement in boys. If the testicular enlargement or breast development has not occurred at an mean age of puberty in population plus 2-2.5 SD, it will be called delayed puberty. The mean age is depend on various factors, such as race, nutrition, and also socioeconomic status. Recently, the puberty age is decreasing in US and other countries. The main complications of delayed puberty are osteoporosis, psychological problems, polycythemia, and irritation from hormonal gels and patches. The major determinant of delayed puberty prognosis is underlying co-morbidity, not the disease itself. Constitutional delay of growth and puberty (CDGP) has an excellent prognosis. The puberty and final height in these patients will occur normal in the future, without any hormone replacement.
Diagnosis
History and Symptoms
The hallmark of delayed puberty is lack of testicular enlargement in boys or breast development in girls in specific stage of life. The age, in which secondary sexual characteristics are checked, is 2-2.5 SD more than the standard population average age of puberty onset. The age is 14 for boys and 13 for girls, on average. A positive family history of delayed puberty is strongly associated with delayed puberty. The most common contributing symptom of delayed puberty is anosmia or hyposmia. Less common symptoms of delayed puberty are including the symptoms related to its underlying diseases.