Overview
Delayed puberty describes incomplete or absent development of sexual characteristics beyond the usual age at which puberty starts:
- In girls, this can be:
- Absent breast development by 13 years old
- Amenorrhoea with normal breast development by 15 years old
- In boys, this can be:
- Absent testicular development (usually a volume <4 mL) by 14 years old
In most cases, puberty is delayed for a few years, then occurs normally. This is known as a constitutional delay in growth and development.
Epidemiology
- Constitutional delay in growth and development is more common in boys than girls
- Many parents present with their child with concerns about height growth rather than sexual development
Causes
Hypo- and hypergonadotropic hypogonadism
The gonads (testes and ovaries) are stimulated by gonadotropins (FSH and LH) to produce sex hormones (testosterone and oestrogen). If they do not produce sex hormones, this is known as hypogonadism.
Hypogonadotropic hypogonadism is hypogonadism secondary to a deficiency of FSH and LH. This suggests there is a problem with the hypothalamus and pituitary gland.
Hypergonadotropic hypogonadism is hypogonadism secondary to a problem with the gonads themselves. Oestrogen and testosterone exert negative feedback on the hypothalamus and pituitary gland, reducing the amount of gonadotropin-releasing hormone (GnRH) released. Since no/reduced sex hormones are produced, there is less negative feedback on the release of GnRH, resulting in high GnRH (hypergonadotropic).
This is discussed in more detail here.
Overview
Causes of delayed puberty include:
- Intact hypothalamic-pituitary axis:
- Constitutional delay in growth and development
- Chronic illness (e.g. inflammatory bowel disease, coeliac disease, cystic fibrosis, diabetes mellitus, eating disorders)
- Disorders of the hypothalamic-pituitary axis (hypogonadotropic hypogonadism):
- Irradiation
- Tumours (e.g. craniopharyngioma, pituitary tumours, astrocytomas)
- Trauma (e.g. head injury or surgery)
- Congenital (e.g. Kallman syndrome)
- Disorders of the gonads (hypergonadotropic hypogonadism):
- Damage to the gonads (e.g. testicular torsion, infections such as mumps, cancer, cryptorchidism)
- Gonadal dysgenesis – Klinefelter’s syndrome (XXY), Turner’s syndrome (45X)
- Gonadal surgery
- Gonadal irradiation
Assessment
Overview
An assessment should involve:
- History taking:
- A history to identify potential causes (such as a history of inflammatory bowel disease or previous gonadal surgery)
- A family history including the age of menarche in family members and the presence of delayed growth spurts
- A social history to identify any psychosocial problems (such as support at home and the patient’s living environment)
- Examinations:
- Assessment of height, weight, staging of puberty using the Tanner staging system and plotting of a growth chart
- A general examination to identify suspected underlying causes (e.g. bitemporal hemianopia in pituitary tumours)
Investigations
Overview
Investigations may include:
- Full blood count (FBC) and iron studies:
- To screen for anaemia
- Urea and electrolytes (U&Es):
- To screen for chronic kidney disease
- Coeliac disease antibodies (e.g.IgA anti-tissue transglutaminase antibodies):
- To screen for coeliac disease
- Thyroid function tests (TFTs):
- To screen for hypothyroidism
- Early morning FSH and LH:
- Low in hypogonadotropic hypogonadism
- Elevated in hypertrophic hypogonadism
- Serum insulin-like growth factor I:
- To screen for growth hormone deficiency
- Serum prolactin:
- To screen for hyperprolactinaemia, which can also cause delayed puberty
- X-ray of the wrist:
- Estimates bone age – delayed bone age suggests a constitutional delay
- Pelvic ultrasound:
- To assess pelvic organs (e.g. ovaries) in girls
- MRI brain:
- To assess for pituitary pathology and the olfactory bulbs in Kallman syndrome
- Genetic tests:
- Considered if a genetic disorder is suspected
Management
Overview
Management involves treating the underlying cause. If a constitutional delay in growth and development is present, treatment is often not necessary.
Replacement sex hormones may be given under specialist guidance to induce puberty. They may also be considered in patients with a constitutional delay in growth and development to allow them to catch up with their peers.
