delayed puberty
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What is delayed puberty?
Delayed puberty is the failure of the reproductive system to develop physically at the expected life stage when a child transitions into a procreative adult. In girls, it is suspected if no pubertal development occurs by age 13 or 14, or if menstruation hasn't occurred by age 16. In boys, it is suspected if no pubertal development has occurred by age 14.
The causes vary, and in many instances, no cause is found. If the cause is diagnosed and treated, most affected children will progress through puberty and not experience adverse long-term effects. Treatment depends on the cause and may not always be necessary. Hormone treatments, such as testosterone for boys and estrogen or progesterone for girls, can help stimulate the development of secondary sex characteristics.
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How do doctors know if someone has delayed puberty?
Doctors diagnose delayed puberty based on the absence of physical development of the reproductive system at the typical age. In girls, it's considered delayed if no pubertal development occurs by age 13 or 14, or if menstruation hasn't started by age 16. For boys, it's delayed if no pubertal development occurs by age 14.
To determine the cause of delayed puberty, doctors consider factors such as the child's stature. If a boy has short stature, the cause is likely hypopituitarism. If the boy's stature is normal, likely causes are a deficiency of gonadotropin-releasing hormone, a deficiency of gonadotropin, chronic illness, and primary gonadal disorders. They may also use X-rays of the hands and wrists to estimate bone age, which can reveal maturation of bone growth centers.
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What are common causes of delayed puberty?
Delayed puberty is when a child's body doesn't develop as expected during adolescence. In girls, it's when there's no breast development by age 13 or menstruation by age 16. In boys, it's the absence of testicular development by age 14.
Common causes include:
* Hormone deficiencies Problems with the pituitary gland or hypothalamus can lead to a lack of necessary hormones like testosterone or estrogen.
* Genetic disorders Turner syndrome or Klinefelter syndrome can affect sexual development.
* Chronic illness Ongoing health issues can delay puberty.
* Malnutrition Inadequate nutrition can also be a factor.In many instances, the cause remains unknown.
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How does delayed puberty affect boys and girls differently?
Delayed puberty affects boys and girls differently, with varying causes and manifestations. In boys, common causes include hypopituitarism, deficiency of gonadotropin-releasing hormone, chronic illness, and primary gonadal disorders such as Klinefelter syndrome. Delayed puberty in boys can cause social and psychological problems.
In girls, delayed puberty may result from gonadal dysgenesis (Turner syndrome), hypopituitarism, or gonadotropin-releasing hormone deficiency. Some girls may experience normal pubertal development but have primary amenorrhea, which is the absence of menstruation, often due to anomalous development of the uterus or vagina.
Both sexes may experience emotional and social challenges, alterations in growth patterns, and decreased bone density. Treatment varies depending on the cause, using hormones like testosterone for boys and estrogen or progesterone for girls to stimulate the development of secondary sex characteristics.
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What tests might a doctor use to find the cause of delayed puberty?
To determine the cause of delayed puberty, a doctor might use several tests. If short stature is present, possible causes include hypopituitarism or, in girls, Turner syndrome. If stature is normal, possible causes include gonadotropin-releasing hormone deficiency, chronic illness, or excessive exercise.
Doctors can estimate a child’s growth potential by measuring the child’s height and the heights of the parents, and by measuring skeletal, or bone, age. X-rays of the hands and wrists can accurately estimate bone age in children by showing the extent of maturation of the epiphyses (growth centers) of bones. In children with endocrine disorders, bone age may not correlate closely with chronological age.
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How can delayed puberty be treated or managed?
Delayed puberty treatment depends on the cause, and sometimes is unnecessary. If diagnosis and treatment are delayed in patients with a severe disorder of delayed puberty that is not associated with malnutrition, the epiphyseal centers of the bones may remain open, allowing linear growth to continue. These individuals often become tall with unusually long legs and long arms, a body type referred to as eunuchoid habitus.
Disorders of delayed puberty are treated with testosterone in boys and estrogen or progesterone in girls. These hormones stimulate the development of secondary sex characteristics.
Puberty blockers such as goserelin, leuprorelin, and triptorelin, can cause side effects, including fatigue, headaches, hot flashes, and mood changes. Long-term use may be associated with alterations in overall growth patterns, impacts on final height and body composition, and decreased bone density, which requires monitoring and additional treatment, often involving supplementation with calcium and vitamin D.
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delayed puberty, failure of the physical development of the reproductive system by the normal stage or period of life when a child transforms into an adult capable of procreation. In girls, puberty is considered to be delayed if no pubertal development has occurred by age 13 or 14, and girls who have not menstruated by age 16 are considered to have primary amenorrhea. In boys, puberty is considered to be delayed if no pubertal development has occurred by age 14.
Delayed puberty in girls
In girls, delayed puberty and primary amenorrhea may be subdivided according to associated changes in stature. If the affected girl is short, the likely causes are gonadal dysgenesis (Turner syndrome) or hypopituitarism (with both gonadotropin and growth hormone deficiency). Gonadal dysgenesis results from the absence of a sex chromosome or other abnormality of a sex chromosome. In affected girls the gonads are streaks of fibrous tissue and contain no follicles, and these girls may have a variety of congenital anomalies, including a webbed neck, a shieldlike chest, or a small jaw. If the affected girl’s stature is normal, the likely causes are gonadotropin-releasing hormone deficiency (sometimes with an absence of the sense of smell, called Kallman syndrome), gonadotropin deficiency, chronic illness, or excessive exercise. However, in many cases there is no cause to be found (idiopathic or constitutional delay in puberty). Very rarely, the cause is decreased estrogen synthesis, which may be due to the absence of the aromatase enzyme that converts androgens to estrogens or due to the presence of defective estrogen receptors. In the latter disorder, estrogen is produced, but the receptors to which it must bind in order to act are missing or abnormal.
Some girls with normal stature have normal pubertal development but primary amenorrhea. Affected girls may have anomalous development of the uterus or vagina so that menstrual bleeding cannot occur. This may be due to testicular feminization in genetic males. Testicular feminization is caused by a mutation in the gene for the androgen receptor that prevents testosterone from acting on its target tissues. Affected patients have female external genitalia, a short vagina (but no uterus), breast development, and other features of estrogen action.
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Delayed puberty in boys
Similar to girls, the causes of delayed puberty in boys are variable. If the boy’s stature is short, the likely cause is hypopituitarism (with both gonadotropin and growth hormone deficiency). If the boy’s stature is normal, the likely causes are deficiency of gonadotropin-releasing hormone (sometimes with Kallman syndrome), deficiency of gonadotropin, chronic illness, and primary gonadal disorders. However, in many cases no cause is found (idiopathic or constitutional delay in puberty). Primary gonadal disorders include absence of the testes, cryptorchidism, Klinefelter syndrome, enzymatic defects in testosterone biosynthesis, and testicular resistance to the action of luteinizing hormone. Klinefelter syndrome is a chromosomal disorder in which there is one or occasionally more than one X chromosome, and it is characterized by small testes, breast enlargement, decreased testosterone production, and increased serum gonadotropin concentrations.
Prognosis and treatment
The treatment of delayed puberty depends on the specific cause, and in some cases treatment is not necessary. When the cause is diagnosed and treated, most affected children will progress through puberty and do not experience adverse long-term effects. However, if diagnosis and treatment are delayed in patients with a severe disorder of delayed puberty that is not associated with malnutrition, the epiphyseal centres of the bones may remain open, allowing linear growth to continue. These individuals often become tall with unusually long legs and long arms, a body type referred to as eunuchoid habitus. Disorders of delayed puberty are treated with testosterone in boys and estrogen or progesterone in girls. These hormones stimulate the development of secondary sex characteristics.