Delayed puberty physical examination
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Eiman Ghaffarpasand, M.D. [2]
Overview
Patients with delayed puberty usually appear normal. Physical examination of patients with delayed puberty is usually remarkable for delayed growth spurt along with the small testicular size (less than 4 mL or 2.5 cm) in boys older than 14 and thelarche stage 0-1 in girls older than 13. Testicular size is either the length of the longest axis or the volume using the Prader orchidometer. Thelarche stage is determined in Tanner staging system. The lack of pubic or axillary hairs and also amenorrhea are highly suggestive of delayed puberty.
Physical Examination
- Physical examination of patients with delayed puberty is usually remarkable for small testicular size (less than 4 mL or 2.5 cm) in boys older than 14 and thelarche stage 0-1 in girls older than 13.[1]
- Testicular size is identified by the length of the longest axis or by its volume using the Prader orchidometer.
- Thelarche stage is determined by use of Tanner staging system.
- The lack of pubic or axillary hairs and also primary amenorrhea is highly suggestive of delayed puberty.
Growth Rate
- A rate of less than 3 cm per year, in both sexes during early adolescence, suggests a growth retardation.
- The main reasons for growth retardation are growth hormone (GH) deficiency, hypercortisolism, and hypothyroidism. Decreased rate of growth may reflect the constitutional delay of growth and puberty (CDGP).
- Overweight boys with delayed puberty will ultimately reach their genetic height potential.[2][3]
Appearance of the Patient
- Patients with delayed puberty usually appear normal.
- Patients appear to be younger than their chronological age, due to lack of adult type sexual characteristics.
- They may have a mildly depressed mood, because of delayed puberty.[4]
- The proportion of upper to lower body parts is more than normal.
Vital Signs
- Usually within the normal limits
HEENT
- Anosmia/Hyposmia may be seen in Kallmann syndrome.
- Nystagmus and visual impairment may be seen in septo-optic dysplasia.
- Hearing acuity loss, choanal atresia, and coloboma may be seen in CHARGE syndrome.[5]
- Prominent posterior rotated ears may be seen in Turner's syndrome.
Neck
- Webbed neck may be seen in Turner's syndrome.
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Breast
- No breast development (thelarche) in more than 13 years old girls.
- Gynecomastia in Klinefelter's syndrome.[7]
Heart
- Tetralogy of Fallot may be seen in CHARGE syndrome.[5]
- Bicuspid aortic valve or aortic dilation may be seen in Turner's syndrome.[8]
Abdomen
- Abdominal obesity may be seen in Prader-Willi syndrome.[9]
Genitourinary
- Testicular volume less than 4 mL or testicular longitudinal length less than 2.5 cm in more than 14 years old boys.
- Atrophied testes may be seen in Klinefelter's syndrome.[7]
- Lack of pubic hair and any other secondary sexual characteristics
| Stage 1 | Prepubertal external genitalia Prepubertal pubic hair Growth 5-6 cm/year |  | |||||||||||||||||||||||||||||||||||||||||||
| Stage 2 | Enlargement of scrotum and testes; scrotum skin become hyperpigmented and harder Sparse growth of long, slightly pigmented hair, straight or curled, at base of penis Growth 5-6 cm/year |  | |||||||||||||||||||||||||||||||||||||||||||
| Boys | Stage 3 | Enlargement of penis (length at first); further testes growth Darker, coarser, and more curled hair, spreading over pubes Growth 7-8 cm/year |  | ||||||||||||||||||||||||||||||||||||||||||
| Stage 4 | Increased penis size with growth and development of glans; testes and scrotum larger, scrotum skin darker Adult type hair, but smaller area; no spread to medial surface of thighs Growth 10 cm/year |  | |||||||||||||||||||||||||||||||||||||||||||
| Stage 5 | Adult external genitalia Adult type hair with same horizontal distribution ("feminine") No further height increase after 17 years |  | |||||||||||||||||||||||||||||||||||||||||||
| Tanner staging | |||||||||||||||||||||||||||||||||||||||||||||
| Stage 1 | Prepubertal external genitalia Prepubertal pubic hair Growth 5-6 cm/year |  | |||||||||||||||||||||||||||||||||||||||||||
| Stage 2 | Breast bud with elevation of breast and papilla; enlargement of areola Sparse growth of long, slightly pigmented hair, straight or curled, along labia Growth 7-8 cm/year |  | |||||||||||||||||||||||||||||||||||||||||||
| Girls | Stage 3 | Further enlargement of breast and areola; no separation of their contour Darker, coarser and more curled hair, spreading sparsely over junction of pubes Growth 8 cm/year |  | ||||||||||||||||||||||||||||||||||||||||||
| Stage 4 | Areola and papilla form a secondary mound above level of breast Adult type hair, but smaller area than in adult; no spread to medial surface of thighs Growth 7 cm/year |  | |||||||||||||||||||||||||||||||||||||||||||
| Stage 5 | Mature breast: projection of papilla only, related to recession of areola Adult type hair with horizontal distribution ("feminine") No further growth after 16 years |  | |||||||||||||||||||||||||||||||||||||||||||
Normal puberty timing
Approximate mean ages for various pubertal changes are as follows. Developmental changes during puberty in girls occur over a period of 3-5 years, usually between 9 and 14 years of age. They include the secondary sex characteristics beginning with breast development, adolescent growth spurt, menarche (not correspond to the end of puberty), and the acquisition of fertility, as well as profound psychological alterations.[10]
North American, Indo-Iranian (India, Iran) and European girls
- Thelarche: 10 years and 5 months of age
- Pubarche: 11 years of age
- Growth spurt: 10-12.5 years of age
- Menarche: 12.5 years of age
- Adult height reached: 14.5 years of age
North American, Indo-Iranian (India, Iran) and European boys
- Testicular enlargement: 11.5 years of age
- Pubic hair: 12 years of age
- Growth spurt: 12.5–15 years of age
- Completion of growth: 17.5 years of age
Neuromuscular
- Hypotonia may be seen in Prader-Willi syndrome.[9]
Extremities
- More upper to lower body proportion ratio may be seen.
References
- ↑ Palmert, Mark R.; Dunkel, Leo (2012). "Delayed Puberty". New England Journal of Medicine. 366 (5): 443–453. doi:10.1056/NEJMcp1109290. ISSN 0028-4793.
- ↑ Lee JM, Kaciroti N, Appugliese D, Corwyn RF, Bradley RH, Lumeng JC (2010). "Body mass index and timing of pubertal initiation in boys". Arch Pediatr Adolesc Med. 164 (2): 139–44. doi:10.1001/archpediatrics.2009.258. PMC 4172573. PMID 20124142.
- ↑ Nathan BM, Sedlmeyer IL, Palmert MR (2006). "Impact of body mass index on growth in boys with delayed puberty". J. Pediatr. Endocrinol. Metab. 19 (8): 971–7. PMID 16995581.
- ↑ Lee PD, Rosenfeld RG (1987). "Psychosocial correlates of short stature and delayed puberty". Pediatr. Clin. North Am. 34 (4): 851–63. PMID 3302895.
- ↑ 5.0 5.1 Dörr HG, Boguszewski M, Dahlgren J, Dunger D, Geffner ME, Hokken-Koelega AC, Lindberg A, Polak M, Rooman R (2015). "Short Children with CHARGE Syndrome: Do They Benefit from Growth Hormone Therapy?". Horm Res Paediatr. 84 (1): 49–53. doi:10.1159/000382017. PMID 26044035.
- ↑ https://openi.nlm.nih.gov/detailedresult.php?img=PMC3093801_cln-66-04-691-g001&req=4
- ↑ 7.0 7.1 Close S, Fennoy I, Smaldone A, Reame N (2015). "Phenotype and Adverse Quality of Life in Boys with Klinefelter Syndrome". J. Pediatr. 167 (3): 650–7. doi:10.1016/j.jpeds.2015.06.037. PMID 26205184.
- ↑ Lopez L, Arheart KL, Colan SD, Stein NS, Lopez-Mitnik G, Lin AE, Reller MD, Ventura R, Silberbach M (2008). "Turner syndrome is an independent risk factor for aortic dilation in the young". Pediatrics. 121 (6): e1622–7. doi:10.1542/peds.2007-2807. PMID 18504294.
- ↑ 9.0 9.1 Cassidy SB, Schwartz S, Miller JL, Driscoll DJ (2012). "Prader-Willi syndrome". Genet. Med. 14 (1): 10–26. doi:10.1038/gim.0b013e31822bead0. PMID 22237428.
- ↑