Delayed onset of puberty or delayed puberty

Specialty: Pediatrics.

• Pubertal delay
• absence of late pubertal development

Why it occurs

• Constitutional growth and development delay or RCCD (variant of normality most common in men, with similar family history, delayed bone age coinciding with the age of development and final prognosis of normal height)
• Congenital or acquired hypogonadotropic hypogonadism (failure in the secretion of hypothalamic GnRH or pituitary gonadotropins due to genetic mutations such as Kallmann Syndrome, or due to tumors of the sellar region such as craniopharyngioma)
• Hypergonadotropic hypogonadism due to primary gonadal failure (structural genetic anomalies of the gonads such as Klinefelter Syndrome 47,XXY in men or Turner Syndrome 45,X in women)
• Chronic debilitating diseases or malnutrition (active celiac disease, anorexia nervosa, renal failure or cystic fibrosis that functionally inhibit the gonadotropic axis)
• Extreme competitive physical exercise or severe chronic psychological stress (common in gymnasts or ballet dancers).

Initial workup

Determination of bone age by x-ray of the left hand and wrist (to estimate residual growth potential). Complete hormonal analysis: basal LH and FSH and/or after stimulation with GnRH analogue; Estradiol in girls; Total testosterone in children; Prolactin; Thyroid hormones (TSH and free T4). Peripheral blood karyotype (mandatory in girls with suspected Turner and boys with suspected Klinefelter). Celiac disease screening (IgA anti-transglutaminase antibodies). Magnetic resonance imaging of the brain and sella turcica if hypogonadotropic hypogonadism is found or associated neurological symptoms.

Standard management

• In constitutional growth delay in males over 14 years of age with marked psychological involvement, temporary pubertal induction can be performed: Testosterone enanthate — dose of 50 to 100 mg by deep intramuscular route once a month for 3 to 6 months, a regimen that accelerates linear growth without compromising final adult height
• Ethinyl estradiol or Oral conjugated estrogens, or Transdermal estradiol in patches (induction hormone replacement therapy in girls with primary hypogonadism, started at very low doses to mimic physiological puberty and prevent early bone fusion, under strict pediatric endocrinological control).