Defined as the lack of any pubertal signs by the age of 13 years in girls and 14 years in boys. More common in boys.
May be functional (constitutional delay, underlying chronic disease, malnutrition, excessive exercise) or organic, due to either a lack of serum gonadotrophin production or action (hypogonadotrophic hypogonadism), or gonadal insufficiency with elevated gonadotrophins (hypergonadotrophic hypogonadism).
Most patients seek medical assistance because of slow growth rather than slow pubertal development.
Careful assessment of height and pubertal stage is crucial for evaluation of the underlying cause.
The distinction between organic gonadotrophin deficiency and constitutional delay of puberty is not easy and is often resolved only with time.
Patients with constitutional delay are typically observed. Sex-steroid treatment is reserved for those with psychosocial maladaptation, and consists of a short course of sex steroids to induce puberty.
Patients with an organic cause for delay are given sex-steroid therapy to induce puberty and are most likely to require lifelong hormone replacement therapy after puberty is complete.
Puberty is an interval characterised by the acquisition of the secondary sexual characteristics, accelerated linear growth, increase in the secretion of sex hormones, maturation of gonads (testes in boys; ovaries in girls), and the potential for reproduction. It is typically complete within 2 to 5 years. Delayed puberty is defined as the lack of any pubertal signs by the age of 13 years in girls and 14 years in boys.
History and exam
Key diagnostic factors
- presence of risk factors
- boys: testes <3 mL
- girls: absent breast development
- absent pubic/axillary hair
- absence of menarche
- absent growth spurt
Other diagnostic factors
- short stature
- dysmorphic features
- family history of delayed puberty
- congenital pituitary structural abnormalities
- gene mutations
- chromosomal disorders
- syndromic diagnosis
- eating disorders
- chronic systemic illness
- intense exercise
- congenital testicular abnormalities
- acquired gonadal abnormalities
- pituitary surgery
- adrenal hypoplasia
- sickle cell disease
- iron overload (associated with transfusion)
1st investigations to order
- non-dominant wrist x-ray
- basal follicle-stimulating hormone and luteinising hormone
Investigations to consider
- luteinising hormone-releasing hormone stimulation test
- human chorionic gonadotrophin stimulation test
- MRI brain
- ultrasound pelvis and abdomen
- serum ovarian autoantibodies
- assessment of olfaction
- thyroid function tests
- serum prolactin
- other pituitary hormone investigations
- overnight gonadotrophin profile
organic (permanent) cause: boys
organic (permanent) cause: girls
chronic illness or malnutrition
persistent hypogonadism post-puberty
- Premature ovarian failure
- Premature testicular failure
- ACR-ACOG-AIUM-SPR-SRU practice parameter for the performance of ultrasound of the female pelvis
- Testosterone therapy in infancy and adolescence
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