Boys may have damage to their testes producing delayed or arrested puberty. One of the common genetic reasons for this is Klinefelter syndrome. They have an extra X chromosome (XXY instead of XY) Boys with this medical problem may have behavioural problems in childhood, delay or slow progression of puberty associated with slow shrinkage of testes. These children will benefit from treatment with testosterone.
Some boys and girls may have features of delayed puberty and poor sense of smell. This is due to a genetic defect called Kallmann syndrome. They may have other features like deafness, cleft lips, and various neurological defects. Some forms of these disease may be inherited and run in families. Genetic analysis can be used to pinpoint the specific defect.
Many short girls with delayed puberty have Turner syndrome. In Turner syndrome, one of the X chromosomes (XO instead of XX) is missing. Girls with Turner syndrome have short stature in addition to delayed puberty and various other external features.
Girls with Turner syndrome need endocrine evaluation to detect a host of problems related to the heart, kidneys, and the skeletal system. If they are detected early, there is a valuable opportunity to improve their height with growth hormone therapy.
Various reasons can cause delayed puberty in boys and girls. The endocrinologist will systematically look for chronic diseases which can interfere with growth. Common diseases like thyroid diseases and certain drugs like steroids needs to be evaluated. Then they will look for various diseases which may cause reduced production of testosterone (in boys) and estrogen (in girls).
One of the most important things done by the endocrinologist is a careful clinical examination of the child. As the hormones in this age can be very variable, only a clinical examination and follow up can help understand the progression of puberty.
The most common cause of delayed puberty in boys is constitutional delay in growth and puberty. These boys remain shorter and looks more “child-like” compared to other boys at the same age. However, they enter puberty later than normal and eventually catch up by 18-19 years of age.
Rather than waiting for these boys to enter puberty endlessly, it is better to get them checked by an endocrinologist. It is important to know if they have hypogonadism and then take appropriate actions at the earliest.
Puberty is delayed when there is no sign of pubertal development in boys by 14 years and in girls by 13 years. The first sign of puberty in girls is breast enlargement. It is mostly visible and sometimes mildly painful. In boys, the first sign of puberty is enlargement of the testes. This is usually not noticeable. However, most boys are brought to the endocrinologists only when parents fail to notice pubic hair growth.
But pubic hair growth can be present even in people with pubertal delay.
Of the various medicines available for osteoporosis, the endocrinologist can decide the best choice based on the risk of fractures for the patient, the BMD, age, cause for osteoporosis and safety of the medicines.
This will be an informed decision made in discussion with you. In general, your doctor will use medicines that add bone when you have very poor BMD or you have had fractures in the past. This includes medicines like Teriparatide. Otherwise he may use drug classes like bisphosphonates or denosumab. Sometimes, the doctor may use a combination of drugs.
Osteoporosis is a treatable medical condition. Treating osteoporosis can strengthen the bone and prevent fractures. Depending on the severity of osteoporosis, we can use various drugs.
Medicines that prevent bone destruction
Medicines that build bones
Osteoporosis is one of most common chronic disease. Everyone should be aware of the risk factors for osteoporosis. Being a metabolic disease of bone, osteoporosis is primarily managed by endocrinologists. They do tests to understand the reason for osteoporosis and treats it. Osteoporosis is strongly associated with arthritis and is also treated by rheumatologists. Many people with osteoporosis patients will never know that they have the disease till they sustain the first fracture. They will be treated by orthopaedic surgeons.
