Pubertal Delay
Pubertal delay for a boy is defined as not beginning secondary sexual development by age 14 years (more than 2.5 standard deviations [SD] older than the mean). For a girl, lack of breast or pubic hair development by age 13 years and absence of menarche by age 16 years are considered abnormal. If pubertal changes are not complete in 4 years in females, possible hormone deficiency should be investigated
Differential Diagnosis
- Constitutional delay of puberty
–Most common cause, explaining 90–95% of pubertal delay, often familial
–Delay in the onset of puberty (and associated linear growth spurt)
–Once puberty begins, progression and final
height and development are normal
–Frequently called “late bloomers”
–Bone age is delayed and growth velocity is
normal for bone age
-
Chronic disease
–All can cause delay of growth and puberty
–Associated with delayed bone age
-
Hypogonadotropic hypogonadism
–Isolated gonadotropin deficiency (Kallmann
syndrome)
–Congenital hypopituitarism
–Congenital CNS abnormalities: Septo-optic
dysplasia, hydrocephalus, holoprosencephaly
–Acquired CNS abnormalities: Tumors (e.g., craniopharyngioma), infection (e.g., meningitis), trauma, histiocytosis X
–Radiation treatment for brain tumor (hypothalamus/pituitary dysfunction)
–Hyperprolactinemia (sometimes with microadenoma)
–Thalassemia major (iron deposition in
anterior pituitary)
–Prader-Willi syndrome
–Laurence-Moon-Bardet-Biedl syndrome
–Anorexia nervosa
-
Congenital hypergonadotropic hypogonadism
–Turner syndrome in girls (most common
cause of primary hypogonadism in girls)
–Klinefelter syndrome in boys
–Noonan syndrome
-
Acquired hypergonadotropic hypogonadism
–Autoimmune disease
–Infection (e.g., mumps causing orchitis in
males)
–Radiation or chemotherapy
–Ischemic (e.g., after gonadal torsion)
–Surgical resection
Workup and Diagnosis
- History
–Growth history, age of development of secondary sexual characteristics
–Sense of smell; visual or other neurologic problems
–Signs/symptoms of hypopituitarism (hypoglycemia
and jaundice in infancy, midline defects, micropenis)
–Headaches, autoimmune history, galactorrhea, medications, radiation
–Prior infections such as mumps; trauma
- Family history: Age of puberty; growth pattern, congenital problems or genetic syndromes; anosmia
- Physical exam
–Vitals, height, weight, dysmorphic features, midline defects (e.g., cleft palate), test of smell; neuro (disconjugate gaze, visual field defect, etc.)
–Galactorrhea, axillary hair; Tanner staging; acne
–Hirsutism in girls; webbed neck, increased carrying angle of the arms, low posterior hairline, shield chest, pectus excavatum, lymphedema (Turner, Noonan)
- Workup
–Bone age, FSH, LH, testosterone (males), prolactin, thyroid tests
–Systemic disease: ESR, CBC with differential, comprehensive metabolic panel
–If central (hypogonadotropic): Morning cortisol and growth factors, GnRH stimulation testing, MRI of brain and pituitary, FISH for Prader-Willi
–If peripheral (hypergonadotropic): Karyotype, pelvic ultrasound, MIF =marker for testicular tissue
Treatment
-
Constitutional delay of puberty
–Support and reassurance, sometimes brief testosterone treatment to stimulate puberty in males
-
Treatment of underlying chronic disease
-
Hypopituitarism: Replace all hormone deficiencies
–Sex hormones, replacement during adolescence
–Congenital hypopituitarism in males, brief course of
testosterone during infancy to enlarge penis
-
Prolactinoma: Treat with dopaminergic agonist
-
Turner syndrome
–Growth hormone therapy then estrogen replacement
-
Hormone replacement
–Increase the doses to mimic normal puberty
–Eventually cycle estrogen and progesterone in girls
–Testosterone in males (via injection, patch, or gel)
- hCG and pulsatile GnRH for fertility in adults with hypogonadotropic hypogonadism (hormonal treatment cannot overcome injury to oocytes and spermatogenesis in hypergonadotropic)
Book Source Details
- Book Title: In A Page: Pediatric Signs and Symptoms
- Author(s): Jonathan E. Teitelbaum, Kathleen O. Deantonis, Scott Kahan
- Year of Publication: 2007
- Copyright Details: In A Page: Pediatric Signs and Symptoms, Copyright © 2007 Lippincott Williams & Wilkins.
Other Book Chapters Related to Delayed puberty
Read excerpts from these other book chapters related to Delayed puberty:
Copyright Details: In A Page: Pediatric Signs and Symptoms, Copyright © 2008 Williams & Wilkins.
More About Causes of Delayed puberty
|
|
More About This Book:
Title: In A Page: Pediatric Signs and Symptoms
Authors: Jonathan E. Teitelbaum, Kathleen O. Deantonis, Scott Kahan
Publisher: Lippincott Williams & Wilkins
Copyright: 2007
ISBN: 1-4051-0427-9
|
|
» Next page: DELAYED PUBERTY (Differential Diagnosis in Primary Care)
Rate This Website
What do you think about the features of this website?
Take our user survey and have your say:
Website User Survey
Medical Tools & Articles:
Next articles:
Tools & Services:
Medical Articles:
Forums & Message Boards
- Ask or answer a question at the Boards:
