Delayed puberty is defined as the lack of pubertal signs at an age that is 2 to 2.5 standard deviations later than the population mean, typically by the age of 13 years in girls and 14 years in boys. It is more common in boys.
Delayed puberty may be functional (constitutional delay, underlying chronic disease, malnutrition, excessive exercise) or organic, due to either a lack of serum gonadotropin production or action (hypogonadotropic hypogonadism), or gonadal insufficiency with elevated gonadotropins (hypergonadotropic hypogonadism).
Many 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 gonadotropin deficiency and constitutional (self-limited) delay of puberty is not easy and is often resolved only with the passage of time.
Patients with constitutional delay are typically monitored clinically. Sex-steroid treatment is reserved for those with a more marked delay or 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 (or gonadotropins in hypogonadotropic hypogonadism) to induce puberty and are most likely to require lifelong hormone replacement therapy after puberty is complete.
Puberty is an interval characterized 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 specific pubertal signs, which is defined by breast budding in girls and a testicular volume of 4 mL or more in boys, at an age that is 2 to 2.5 standard deviations later than the population mean, typically by the age of 13 years in girls and 14 years in boys.
History and exam
Key diagnostic factors
- boys: testes <4 mL
- girls: absent breast development
- absent pubic/axillary hair
- absence of menarche >3 years from breast budding
- 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
- restrictive eating
- chronic systemic illness
- intense exercise
- congenital testicular abnormalities
- acquired gonadal abnormalities
- pituitary surgery
- adrenal hypoplasia
- radiation therapy
- sickle cell disease
- iron overload (associated with transfusion)
1st investigations to order
- Tanner staging
- measurement of testicular size
- nondominant wrist x-ray
- basal follicle-stimulating hormone (FSH) and luteinizing hormone (LH)
Investigations to consider
- luteinizing hormone-releasing hormone stimulation test (LHRH)
- inhibin B
- anti-Mullerian hormone (AMH)
- human chorionic gonadotropin (hCG) stimulation test
- MRI brain
- ultrasound pelvis and abdomen
- serum ovarian autoantibodies
- assessment of olfaction
- thyroid function tests
- serum prolactin
- other pituitary hormone investigations
- overnight gonadotropin profile
- genetic sequencing
- measurement of LH following stimulation with kisspeptin
organic (permanent) cause: boys
organic (permanent) cause: girls
chronic illness or malnutrition
persistent hypogonadism postpuberty
- Premature ovarian failure
- Premature testicular failure
- Hypogonadotropic Hypogonadism
- Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency
- Society for Endocrinology UK guidance on the initial evaluation of a suspected difference or disorder of sex development (revised 2021)
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