Puberty & Tanner Staging Price Ward, M.D. A 13-year-old boy presents for a routine health supervision visit. He is very concerned about a lump on his chest that appears to be increasing in size. You have not seen him in 2 years, and your last note indicates that the results of his examination were normal. He appears well, has normal vital signs, and has a body mass index of 25. He is very embarrassed and reluctantly allows you to examine him. You find a slightly tender, rubbery mass under his right areola that measures approximately 2 cm in diameter. The remainder of his examination, including a genital examination, is unremarkable. He is at sexual maturity rating 2/3. • Of the following, the MOST appropriate next step in this boy’s management is to • • • • • A. B. C. D. E. discuss normal development obtain an endocrinology consult obtain ultrasonography of the mass refer him to a plastic surgeon for excision of the mass suggest that treatment for the mass is weight loss • The boy in the vignette presents with gynecomastia as evidenced by the presence of a firm rubbery mass under the nipple-areolar complex. In males, during early puberty, the ratio of estrogen to testosterone is increased, and up to 70% of males in sexual maturity rating (SMR) stage 2 of pubertal development (testicular volume of 5-10 mL) have some breast enlargement on examination that may be tender as a result of edema and inflammation. Although initially unilateral, the other breast enlarges in up to 75% of cases. In most males, such breast tissue is no longer palpable after 18 months (1–3 years) because puberty progresses and androgen concentrations increase. Therefore, discussing normal developmental changes and reassuring this adolescent is all that is required at this time. If the mass does not regress after 2 years or by the end of pubertal development, especially if it causes emotional concerns, referral to a plastic surgeon may be considered. PREP Pearls •Reassurance and follow-up to ensure regression of male breast enlargement in early puberty is usually sufficient. •Male breast enlargement in early puberty is most often caused by physiologic hormonal changes. •A comprehensive history and physical examination are usually the extent of the evaluation required for male breast enlargement in early puberty. Goals of this talk: Understand normal puberty so that you can appreciate abnormal Appropriately identify the Tanner Stage/SMR of your patients Common Concerns of Puberty Starting too late or too early Unequal development of breasts Breast tissue in boys Acne, dandruff, body odor AM I NORMAL??? Typical Ages of Puberty Events • Start of Puberty – Boys: 11-12 – Girls: 10-11 • Length of Puberty – Boys: 3-4 years – Girls: 4-6 years Growth Spurt • Boys (~ 14 yrs): – Peak Growth Velocity = SMR 4 = 10 cm/yr – 99% growth by bone age 17 • Girls (~12 yrs): – Peak Growth Velocity = SMR 3 (1 year prior to menarche) = 8-9 cm/yr – Only grow about 7.5 cm total after menarche – 99% growth by bone age 15 Order of Changes • Boys • – 1st: Growth of testicles – Pubic hair appears – Growth of penis, scrotum – Axillary hair – First ejaculations – Growth spurt – Facial Hair – Adult height Girls Breast buds appear = st – 1 : thelarche – Pubic hair appears = adrenarche – Growth spurt – Axillary hair – Breasts mature – Periods begin= menarche – Adult height Precocious & Delayed Puberty • Boys: – Precocious = Onset of puberty before age 9 – Delayed = Onset of puberty after age 14 • Girls: – Precocious = Onset of puberty before age 8 – Delayed = • NO evidence of puberty by age 14 Staging Puberty Development i.e. Tanner Stages or Sexual Maturity Rating Tanner Staging- Girls • Breast Development: 1: prepubertal 2: breast bud, areola widens 3: continued enlargement of areola and breast, no separation of contours 4: areola and papilla separate from contour of breast, secondary mound 5: mature female breast • Pubic Hair: 1: prepubertal: no hair 2: sparse long hair over labia majora 3: daker, coarser, curlier hair sparsely over mons pubis 4: abundant, coarse adulttype hair to mons pubis 5: adult-type/quality hair spreads to medial thighs Tanner Staging- Boys • Genitalia: 1: prepubertal 2: testes and scrotum begin to enlarge 3: Penis lengthens, scrotum further enlarges 4: Further growth of testes and scrotum. Increasing pigmentation of scrotum, width/length of penis 5: Adult size/shape • Pubic Hair: 1: prepubertal 2: sparse long hair at/lateral to base of penis 3: hair darkens, coarser, curlier at/lateral to base of penis 4: abundant coarse adulttype hair over pubis 5: adult-type/quality hair spreads to medial thigh 14 YEARS OLD SMR 2,3 and 4 Breast Stage 1 Sexual Maturity Rating 2 SMR 3 SMR 4 Breast Stage 5 Pubic Hair Stage 3 Pubic Hair Stage 1 Pubic Hair Stage 2 Pubic Hair Stage 5 Pubic Hair Stage 4 A 14-year-old girl presents for her annual health supervision visit. She has no complaints, and her review of systems reveals no findings of note. However, her mother is concerned that her daughter has not yet had menarche. The girl’s height is at the 5th percentile and her weight is at the 25th percentile. On physical examination, she has Sexual Maturity Rating (SMR) 1 breast development and SMR 3 pubic hair. Examination of the external genitalia reveals a patent vagina and pink mucosae. Of the following, the BEST next step in evaluation of this patient is to: A: measure serum estradiol B: obtain a karyotype C: perform a bone age radiograph D: Reassure the family and see them again in 1 year E: re-examine in 6 months The girl described in the vignette has no breast buds (SMR 1) and pink vaginal mucosa, both of which indicate no estrogenization. In addition, she is relatively short, with a height at the 5th percentile. These findings should raise suspicion for Turner syndrome, which requires karyotyping for diagnosis. Measuring serum estradiol is unnecessary because her physical examination findings indicate that the serum estradiol value will be prepubertal. A bone age radiograph would be useful in documenting her skeletal maturity, but it is not the most important next step in evaluating this girl. The lack of evidence of puberty at 14 years of age argues against reassuring the family and re-examining the girl in 6 months or 1 year, which could delay the diagnosis and appropriate therapy. An 8-year-old boy has been referred to you because of concerns regarding his pubertal development. His mother reports that during the last 6 months he has developed pubic hair, axillary hair, and body odor. She also has noted that he seems to be getting taller. His past medical history is otherwise unremarkable. On physical examination, you note an adult body odor and sexual maturity rating 2 pubic hair and axillary hair. His penis appears prepubertal, and his testicles are 2 cm in length. Laboratory testing reveals the following results: •Luteinizing hormone and follicle-stimulating hormone levels, undetectable •Testosterone level, 4 ng/dL (0.14 nmol/L); reference range, 2.5 to 10 ng/dL (0.07-0.35 nmol/L) •Dehydroepiandrosterone sulfate, 167 μg/dL (4.51 μmol/L); reference range, 13-115 μg/dL (0.35-3.10 μmol/L) •17-hydroxyprogesterone levels, 72 ng/dL; reference range, 15-90 ng/dL Of the following, the MOST likely explanation for this boy’s pubic hair development is: A. B. C. D. E. androgen-producing adrenal tumor central precocious puberty exposure to exogenous testosterone late-onset congenital adrenal hyperplasia premature adrenarche Normal pubertal development is due to increased gonadotropin levels that lead to increased production of sex hormones by the gonads. The boy described in the vignette has pubic hair development, axillary hair, and adult body odor but does not have testicular enlargement. Because the first sign of true pubertal progression is enlargement of the testicles, the most likely explanation for this boy’s development of pubic and axillary hair and body odor is premature adrenarche due to the activation of adrenal androgens (eg, dehydroepiandrosterone and dehydroepiandrosterone sulfate). The sulfated form is more practically used in diagnosing conditions because its levels are more stable than nonsulfated dehydroepiandrosterone. Although adrenarche and pubarche (maturation of the gonads) often occur concurrently, the 2 entities are in fact separate and can occur independently. Cases like the one in the vignette are often worrisome to parents and physicians and require a thorough understanding of physiology to differentiate normal processes from pathologic ones. The differential diagnosis of precocious puberty can generally be divided into 2 categories: (1) central true precocious puberty and (2) peripheral pseudoprecocious puberty. In boys, the lack of testicular enlargement removes central precocious puberty from the differential diagnosis and focuses efforts on eliminating other potentially pathologic causes (eg, premature adrenarche, testotoxicosis, exogenous androgen exposure, adrenal tumors, and congenital adrenal hyperplasia). Exposure to exogenous testosterone and androgen-producing tumors could cause pubic hair development and increased body odor without testicular maturation but would also likely be associated with penile growth and a rapid progression of symptoms. Congenital adrenal hyperplasia should also be part of the differential diagnosis but is unlikely in this boy because the screening 17-hydroxyprogesterone level is within the normal range.