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, not ill or toxic. Physical examination of patients with delayed puberty is usually remarkable for delayed growth spurt along with small testicular size (less than 4 mL or 2.5 cm) in more than 14 years old boys and thelarche stage 0-1 in more than 13 years old girls. Testicular size is identified by 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 on physical examination is 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 more than 14 years old boys and thelarche stage 0-1 in more than 13 years old girls.[1]
- Testicular size is identified by 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 on physical examination is highly suggestive of delayed puberty.
Growth Rate
- Rate of less than 3 cm per year, in both sexes during early adolescence, suggests a growth retardation disease.
- The main reasons for growth retardation are including growth hormone (GH) deficiency, hypercortisolism, and hypothyroidism; but decreased rate of growth may reflect constitutional delay of growth and puberty (CDGP).
- Overweight boys involving in delayed puberty will experience their ultimate genetic height potential.[2][3]
Appearance of the Patient
- Patients with delayed puberty usually appear normal, not ill or toxic.
- Patients appear to be younger than their chronological age, due to lack of adult type sexual characteristics.
- They may be on mild depressed mood, because of their problems.[4]
- The proportion of upper to lower body parts is more than normal, most of the times.
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.
Breast
- No breast development (thelarche) in more than 13 years old girls.
- Gynecomastia in Klinefelter's syndrome.[6]
Heart
- Tetralogy of Fallot may be seen in CHARGE syndrome.[5]
- Bicuspid aortic valve or aortic dilation may be seen in Turner's syndrome.[7]
Abdomen
- Abdominal obesity may be seen in Prader-Willi syndrome.[8]
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.[6]
- Lack of pubic hair and any other secondary sexual characteristics
Neuromuscular
- Hypotonia may be seen in Prader-Willi syndrome.[8]
Extremities
- Bigger 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.
- ↑ 6.0 6.1 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.
- ↑ 8.0 8.1 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.