The goal of this lecture is to improve the assessment of pubertal development. After hearing and assimilating this lecture, the clinician will be better able to:
Background: pubertal development involves transition from immaturity to sexual maturity with fertility and development of secondary sexual characteristics; decreasing sensitivity of hypothalamic–pituitary–gonadal (HPG) axis and increasing pulsatile release of gonadotropin-releasing hormone (GnRH), luteinizing hormone (LH), and follicle-stimulating hormone (FSH); sex differences — formation of breast buds (thelarche) first sign of pubertal development in girls; significant variations in timing, onset, and tempo of puberty, and magnitude of changes; order of progression through puberty predictable; testicular growth first sign of pubertal development in boys
Normal puberty: mean age of onset 11 yr for girls and 11.5 yr for boys; progression from Tanner stage II to V requires 2 to 4 yr; girls — thelarche, followed by adrenarche, peak height velocity (≈12 yr and Tanner stage III-IV), and menarche (≈2 yr after thelarche); boys — testicular enlargement (≈11.5 yr), followed by adrenarche, penile enlargement, peak height velocity (≈14 yr and Tanner stage IV)
Normal variants in puberty: premature thelarche — early breast development without other signs of puberty; occurs <2 yr or >6 yr of age; premature adrenarche — occurs between 6 and 8 yr of age; no height acceleration or advancement in bone age; re-evaluate every 4 to 6 mo
Tanner stages: girls — stage II elevation of breast bud and sparse, long pubic hairs; stage III enlargement of breast bud and coarser pubic hair; stage IV areola and papilla form mound on top of remainder of breast and adult pubic hair distributed throughout small area; stage V mature adult with flat areola and extension of pubic hair onto inner thigh; boys — stage II testicular development, scrotal thinning, and sparse pubic hair; stage III enlargement of penis in length and width, and further testicular and scrotal growth; stage IV further enlargement of penis and testes, and adult pubic hair in distributed throughout small area; stage V mature adult (testes ≈20 cc)
Gynecomastia: affects 75% of boys during puberty (Tanner stages II-III); typically resolves within 2 yr; occurs from estrogen/androgen imbalance or increased tissue sensitivity; screen for Klinefelter syndrome, exposure to estrogens or anti-psychotic medications, and breast tumors; treatment — reassurance; surgery reserved for refractory cases, especially those associated with issues related to body image
Precocious puberty: onset of puberty <8 yr of age for girls and <9 yr of age for boys; central precocious puberty (CPP) — reactivation of HPG axis; more common in girls (mostly idiopathic); in boys, >60% of cases associated with neurologic causes; peripheral precocious puberty (PPP) — caused by late-onset congenital adrenal hyperplasia (CAH), ovarian/testicular tumors, McCune–Albright syndrome, exogenous hormones, and hypothyroidism
Evaluation: bone age — advanced with precocious puberty (not advanced with premature thelarche or adrenarche); laboratory tests — gonadotropins (not helpful); GnRH stimulation test (brisk rise in LH and FSH with CPP; no rise in LH or FSH in prepubertal children or PPP); estradiol and testosterone levels; thyrotropin and free T4; dehydroepiandrosterone sulfate (DHEA-S) and 17-hydroxyprogesterone (to rule out hypothyroidism, late-onset CAH, and adrenal tumors); pelvic ultrasonography — can be used to identify large ovarian cysts and neoplasms; assess development of uterus and ovaries; high-resolution head magnetic resonance imaging — boys with CPP or girls <5 yr of age; imaging — adrenals and gonads
Delayed puberty: lack of secondary sexual characteristics by age of 13 yr in girls or 14 yr in boys; patients generally smaller than peers; more common in boys; lack of progression through stages of puberty by 5 yr after onset of puberty; can cause psychological and social issues; etiologies — constitutional growth delay most common; hypopituitarism; Kallmann syndrome; chronic illness; malnutrition; hypothyroidism; hyperprolactinemia; Turner syndrome; Klinefelter syndrome
Evaluation: bone age — onset of puberty correlates better with bone age than chronologic age; laboratory tests — FSH and LH (may be elevated); thyroid studies; prolactin; imaging — check central nervous system for intracranial lesions; karyotype — rule out Turner and Klinefelter syndromes
Constitutional growth delay: short stature or low-normal growth velocity; delayed bone age; positive family history
Turner syndrome: affects 1 in 5000 live-born girls; typically 45 XO or 46 XX with mosaicism; skeletal growth disturbance (eg, short stature) common; cardiovascular and renal issues; gonadal failure
Carel JC et al: Precocious puberty and statural growth. Hum Reprod Update, 2004 Mar-Apr;10(2):135-47; Latronico AC et al: Causes, diagnosis, and treatment of central precocious puberty. Lancet Diabetes Endocrinol, 2016 Mar;4(3):265-74; Rosenfield RL et al: Thelarche, pubarche, and menarche attainment in children with normal and elevated body mass index. Pediatrics, 2009 Jan;123(1):84-8; Villanueva C, Argente J: Pathology or normal variant: what constitutes a delay in puberty? Horm Res Paediatr, 2014;82(4):213-21; Wei C, Crowne EC: Recent advances in the understanding and management of delayed puberty. Arch Dis Child, 2016 May;101(5):481-8.
For this program, members of the faculty and planning committee reported nothing to disclose.
Dr. Issac was recorded at The 22nd Annual Pediatric Board Review, held August 29-September 2, 2016, in Cleveland, OH, and sponsored by The Cleveland Clinic Foundation. For information about upcoming CME activities from The Cleveland Clinic Foundation, please visit www.ccfcme.org/GoPedReview. The Audio Digest Foundation thanks Dr. Issac and The Cleveland Clinic Foundation for their cooperation in the production of this program.
The Audio- Digest Foundation is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.
The Audio- Digest Foundation designates this enduring material for a maximum of 0 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Audio Digest Foundation is accredited as a provider of continuing nursing education by the American Nurses Credentialing Center's (ANCC's) Commission on Accreditation. Audio Digest Foundation designates this activity for 0 CE contact hours.
PD631602
This CME course qualifies for AMA PRA Category 1 Credits™ for 3 years from the date of publication.
To earn CME/CE credit for this course, you must complete all the following components in the order recommended: (1) Review introductory course content, including Educational Objectives and Faculty/Planner Disclosures; (2) Listen to the audio program and review accompanying learning materials; (3) Complete posttest (only after completing Step 2) and earn a passing score of at least 80%. Taking the course Pretest and completing the Evaluation Survey are strongly recommended (but not mandatory) components of completing this CME/CE course.
Approximately 2x the length of the recorded lecture to account for time spent studying accompanying learning materials and completing tests.
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