Delayed Puberty: Criteria, Diagnosis and Treatment

Delayed puberty is a medical condition in which signs of puberty like sexual development and other characteristics appear later than usual. According to the population studies, there are standard criteria to diagnose this condition. The most common cause is a constitutional delay of growth and puberty (CDGP) and almost 90% of cases of delayed puberty are associated with it less common causes include chronic illnesses, excessive exercise, and even stress. About 3% of children suffer variation in normal puberty.

Diagnostic Criteria for Delayed Puberty

Delayed puberty is defined by

In boys

• No testicles development by age 14.   Or
• Testicular volume lower than 4 ml

In girls

• No breast development by age 13.   Or
• No periods, despite breast development by age 15

Normal Puberty process

Let’s have a look at the normal process

• Hypothalamus– a small part of the brain which starts producing a hormone during the usual period of puberty which marks the start of puberty.
• Pituitary – under influence of this hormones release gonadotropins
• Sex hormones – gonadotropins act on testes or ovaries to produce sex hormones i.e. estrogen in female and testosterone in males
• Changes: these sex hormones act on different parts of the body and start changing them accordingly.

Causes of Delayed Puberty

For better understanding, the causes of delayed puberty can be divided into two broad categories

Central causes: These are common in both the genders and they arise.

• Intact hypothalamus-pituitary axis – there is no abnormalities in the functionality of the hypothalamus and pituitary
• CDGP – most common cause. It is just a simple delay in puberty, the diagnosis is made when all the known causes are excluded.
• Chronic illnesses like kidney failure, diabetes, inflammatory bowel disease.
• Excessive physical exercise
• Malnutrition
• Hypothyroidism
• Impaired hypothalamic-pituitary axis: there is some abnormalities in the functioning in the hypothalamus-pituitary axis
• Tumour which are adjacent to hypothalamus or pituitary
• Radiation injuries
• The congenital disease affecting the pituitary and hypothalamus
• Physical trauma to the brain like any injury or surgery
• Idiopathic hypogonadotropic hypogonadism – very low levels of gonadotropins and sex hormones from birth and reason are not known yet

Peripheral causes: these are associated with the condition affecting gonads (ovaries or testes) which occupies a peripheral position in the body

Boys

• Damage to testicles on both sides
• Cryptorchidism– testes are present in the abdomen instead of the scrotum
• Syndromes associated with abnormal development of testes like Klinefelter’s, Noonan’s or Prader-Willi
• Infection of testes due to mumps
• Drugs like cyclophosphamide

Girls

• Abnormal development of gonads in syndromes like Turner’s, Prader-Willi
• Polycystic Ovarian Syndromes – multiple cysts in ovaries
• Radiation therapy – which can destroy ovaries
• Thalassemia – due to overload of iron

Diagnosis of Delayed Puberty

Your doctor will ask you some question related to your medical history, conduct a physical exam and medical test to find the cause of delay in puberty

• Medical history: Your doctor will ask you many questions related to your symptoms, your current or past medical illnesses, family history
• Physical examination: Basically, your doctor will check for the sound of the chest, heart, abdomen, and determine your pubertal staging.
• There are five stages of puberty defined by your degree of breast development, body hair growth, size or testicles or penis

 Since most of the teenagers suffer from CDGP they don’t require extensive investigation but before, it is recommended to exclude all the causes. So, your doctor may want additional tests such as

• Blood test: it may provide some clue to the underlying cause if any by measuring
• Levels of several hormones like gonadotropins, testosterone, estrogen, thyroxine, prolactin
• Electrolytes balance, ferritin levels
• Chromosome analysis to look for any sex chromosome related syndromes
• Imagining tests
• X-rays: to determine the bone age by taking an x-ray of the wrist. Delayed bone age may occur in CDGP, hypothyroidism and growth hormone deficiency
• Ultrasound: Ultrasound of pelvis in females can be used to look for cysts or tumor
• MRI/CT scan of the brain can be done to find out any pituitary lesion

Treatment of Delayed Puberty

It consists of treating the cause or hormone therapy or a combination of both

• For CDGP – treatment is often not required for the teenagers, monitoring and reassurance is sufficient. Boys often seek for medical treatment because they are worried about their heights. So, short courses of anabolic steroids can be used to allow individuals to catch up height.
• For chronic illness – if puberty is delayed due to an underlying chronic cause then treatment is required but sometimes a short course of hormone therapy may be required to initiate puberty.
• Hormonal treatment – it is usually reserved for the true cases of gonadotropin hormone deficiency or some diseases of testes or ovaries causing no production of sex hormones. In these cases, increasing concentrations of testosterone or estrogen is given to induce puberty. Some patients require lifelong therapy if they have a deficiency of sex hormones still after completion of puberty.

Reference:

• Managing delayed or altered puberty in boys. BMJ. 2012 Dec 3345: e7913. DOI: 10.1136/bmj. e7913.
• Sex Steroid Treatment for Pubertal Induction and Replacement in the Adolescent Girl; Royal College of Obstetricians and Gynaecologists – Scientific impact paper
• Disorders of pubertal development. Dtsch Arztebl Apr106(17):295-303
• Delayed puberty; British Society for Paediatric Endocrinology and Diabetes
• Clinical practice. Delayed puberty. N Engl J Med. 2366(5):443-53. DOI: 10.1056/NEJMcp1109290