Delayed or absent puberty

Ensure that the family understands the normal timing of puberty. It may be helpful to outline normal development at first consultation as this may allay fears. 

Assess whether the parents are the only people with concerns. If so, monitoring may clarify whether there is a growth problem. If the child is the only person concerned about their size and development, then it is worth exploring whether they're being bullied. 

If other professionals, e.g. teacher, health visitor or GP, have expressed concerns about the child then this merits further investigation.

A family history and short stature in the parents is generally suggestive of familial short stature. Extreme short stature in a sibling suggests genetic causes such as Laron syndrome or a skeletal dysplasia.

A family history of constitutional delay of puberty is common, though a history of relatives with absent or arrested puberty raises the possibility of inherited disorders of development e.g. Kallman's syndrome.

Consanguinity is very common in some populations and raises the possibility of inherited recessive conditions affecting growth. If a growth disorder is recessively inherited both parents will have normal heights.

It is important to document the child's birth weight and gestational age. Low birth weight for gestational age, i.e. small for gestational age (SGA), can cause short stature in 10 to 15% of SGA infants.

Premature babies are frequently small, and very premature infants may have incomplete catch-up growth and become small children. 

Ask about the mode of delivery - vaginal, instrumental or operative.

Determine whether the child required time in special care which may affect maternal bonding, or reflect underlying physical problems.

Did the child have any major physical problems as an infant that might affect long term growth and development? Pyloric stenosis and other congenital bowel problems may have led to undernourishment early in life.

Difficulty swallowing, or intolerance to milk may have led to undernourishment early in life. 

Anorexia nervosa and very low BMI of any cause will cause delay of growth, and may also cause hypothalamic dysfunction and pubertal delay.

Soya contains large amounts of phytoestrogens which may interfere with the hypothalamic-pituitary-gonadal axis and may be associated with reversible gynaecomastia.

Steroids also interact with the hypothalamic-pituitary-gonadal axis and may occasionally be found in preparations thought by the patient to be 'natural' or 'herbal'.

Failure to reach normal developmental milestones suggests an underlying more complex problem.

If the child does not attend a normal school, this suggests possible underlying developmental problems which require thorough assessment before the issue of short stature can be addressed.

If the child has stopped attending their regular school, this may reflect underlying social issues or unhappiness. Neglect and malnutrition remain the commonest causes of short stature worldwide. Alternatively, if the child has had repeated absence from school due to illness, e.g. asthma, Crohn's disease, diabetes or cystic fibrosis, these chronic conditions are likely to explain their growth problems. 

The list of differential diagnoses will be different in a patient with multiple medical problems or an obvious congenital condition.

Serious systemic illness of any cause is also associated with pubertal and growth delay. The commonest would be chronic respiratory, renal or gastrointestinal conditions. Specific conditions associated with abnormal pubertal develoment include the intersex disorders, pseudopseudohypoparathyroidism, Cushing's syndrome and congenital hypothyroidism.

Chronic respiratory conditions such as asthma, cystic fibrosis or following premature delivery are commonly associated with growth failure.

Constipation in children usually has social causes - they might be embarrassed to use a public or dirty toilet, or hold on too long as they do not want to stop what they are doing. It may also reflect a poor diet, insufficient fibre or fluid intake.

However, it may also reflect underlying problems such as hypothyroidism, spina bifida or in the neonate Hirschprung's disease or anorectal malformations. Any of these causes may be associated with growth failure and treatment should be directed at the underlying issue including social issues.

Diarrhoea may be a clue to underlying Coeliac disease or thyrotoxicosis. Abdominal pain and poor appetite may be symptoms of Crohn's disease, which affects growth.

If the child has previously followed the same centile line on a growth chart, and has recently deviated this suggests a specific problem. If the child has always been small, and continues to follow a centile line, significant new pathology is unlikely.

Constitutional delay of growth and puberty often follows a specific pattern, with retarded linear growth within the first 3 years of life. Linear growth velocity and weight gain slows as early as age 3-6 months, resulting in downward crossing of growth percentiles, which often continues until age 2-3 years. At that time, growth tends to resume at a normal rate, and these children grow either along the lower growth percentiles or beneath the curve but parallel to it for the remainder of the prepubertal years. At the expected time of puberty, the height of children with constitutional growth delay begins to drift further from the growth curve because of delay in the onset of the pubertal growth spurt.

Catch-up growth, onset of puberty, and pubertal growth spurt occur later than average, frequently resulting in normal adult stature and sexual development. Although constitutional growth delay is a variant of normal growth rather than a disorder, delays in growth and sexual development may contribute to psychological difficulties, warranting treatment for some individuals.

Bone age is usually delayed (typically 2-4 years by late childhood) and is most consistent with the child's height age (the age for which a child's height is at the 50th percentile) rather than the child’s chronologic age.

Full assessment of pubertal staging is required and is outlined on the examination page. Formal Tanner staging should also be performed.

Puberty before 8 years in girls is likely to be precocious and further assessment is necessary. Between 8-13 years most girls will be either ‘Prepuberty’ or ‘In puberty’. If there are no signs of puberty by 13 years, then puberty is delayed and further assessment is indicated. From 13-16 years most girls will be either ‘In puberty’ or ‘Completing puberty’. After 16 years girls will usually be ‘Completing puberty’. If this is not the case, maturation is delayed and further assessment is required.

Puberty before 9 years in boys is likely to be precocious and further assessment is necessary. Between 9-14 years most boys will be either ‘Pre- puberty’ or ‘In puberty’. If there are no signs of puberty by 14 years, then puberty is delayed and further assessment is indicated. From 14-17 years most boys will be either ‘In puberty’ or ‘Completing puberty’. After 17 years boys will usually be ‘Completing puberty’. If this is not the case, maturation is delayed and further assessment may be needed. 

 Has the girl noticed any change in her breasts or developed any new hair?

There has been some breast development or some hair

 Has the girl started having periods?

Has the boy noticed any change to his voice, any new hair, or any change in the size of his penis or testes?

Any change in the voice, reddening of the scrotum or enlargement of the penis, or body hair indicates that puberty has started.

Has the boy developed facial hair or a fully broken voice?

Does the patient have a normal sense of smell? 

Has the patient had any dental problems? 

Has the patient had any renal problems? 

Is there a relevant family history? 

Does the patient have any symptoms suggestive of thyroid dysfunction? 

Is the patient known to have coarcation of the aorta, or other vascular abnormalities? 

Has the patient had any hearing problems? 

Is the patient known to have psychiatric problems or learning difficulties? 

Has the patient had other physical or learning difficulties in the past? 

Weight loss may indicate the development of hypopituitarism or hyperthyroidism. Hypogonadotropic hypogonadism may also occur with Cushing's syndrome and in obesity.

Tall stature and a feminine or 'eunuchoid' body shape may be associated with absent puberty in males.

Gynaecomastia may indicate gonadotropin deficiency but in the absence of other symptoms other causes should be considered. Gynaecomastia occurring in conjunction with weight loss should alert to the possibility of malignancy and other systemic diseases.

These are all causes of gonadal failure, though orchitis is frequently asymptomatic.

Maldescent may be associated with gonadal dysfunction as well as an increased risk of malignancy.

Hypothyroidism is a common cause of growth failure and delayed puberty. 

Also ask whether the patient has developed increased sweating, palpitations, tremor, weight loss or diarrhoea, as thyrotoxicosis may also cause gynaecomastia and oligomenorrhoea.

Growth failure is a common presenting feature of childhood hypopituitarism of any cause, and delayed puberty will also occur with paediatric hypopitutiarism. However, hypopituitarism is conversely a very unusual cause of short stature or pubertal delay - which is usually constitutional.

Excessive exercise may lead to hypothalamic dysfunction and growth failure.

Various drugs in particular steroids are associated with growth failure and pubertal delay, and are commonly used for example in childhood asthma, inflammatory bowel disease or cystic fibrosis.

Various agents associated with hypogonadism are listed below (although it is not exhaustive): 

Opiates and recreational drugs, for example diamorphine, morphine sulphate, heroin, marijuana and alcohol are uncommonly encountered in paediatric patients.

Steroids, for example hydrocortisone, beclamethasone, fluticasone interfere with the hypothalamo-pituitary axis and cause growth and pubertal delay.

Exogenous testosterone, estrogens and drugs with estrogen-like activity, such as diethylstilbestrol and digoxin may cause gynaecomastia but are rarely encountered in children. 

Phenytoin and older antiepileptic agents enhance estrogen synthesis, and may cause abnormalities of pubertal development. The underlying condition may also cause growth failure.

How long has the gynaecomastia been present? 

Is the gynaecomastia bilateral or unilateral? 

Is there any galactorrhoea or mastalgia? 

Are there any features of thyroid dysfunction? 

Does the patient have any symptoms of cardiac or hepatic disease?