Delayed puberty history and symptoms

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Eiman Ghaffarpasand, M.D. [2]

Overview

The hallmark of delayed puberty is lack of testicular enlargement in boys or breast development in girls at a specific age. Secondary sexual characteristics are checked in 2-2.5 standard deviation more than the average age of puberty onset in standard population, 14 years for boys and 13 years for girls. A positive family history of delayed puberty is frequently seen in delayed puberty. The most common symptom of delayed puberty is anosmia or hyposmia. Symptoms of underlying comorbidities are less common symptoms in delayed puberty.

History and Symptoms

The hallmark of delayed puberty is lack of testicular enlargement in boys or breast development in girls at a specific age. Secondary sexual characteristics are checked in 2-2.5 standard deviation more than the average age of puberty onset in standard population, 14 years for boys and 13 years for girls. A positive family history of delayed puberty is frequently seen in delayed puberty. The most common symptom of delayed puberty is anosmia or hyposmia.^[1]

Patients with delayed puberty may have a positive history of one or more of the following:^[1]

Common symptoms of delayed puberty are:

Lack of breast development
- The first sign of puberty in girls is thelarche (breast development).^[5]
Lack of pubic and axillary hair
- Pubic and axillary hair, body odor, and also acne are results of adrenal androgens.
- Axillary hairs are grown in the middle of puberty.
Lack of menarche
- The best identifier of puberty onset in girls is menarche.
- Most of the times, it occurs by the time of thelarche stage 4.
Anosmia/Hyposmia
- Kallmann syndrome is associated with lack of neural tissue migration to olfactory bulbs in central nervous system (CNS).
- Kallmann syndrome is a cause of hypogonadotropic hypogonadism.^[6]

Less common symptoms of delayed puberty are the symptoms related to its underlying diseases, include:

Turner’s syndrome
- Short stature
- Webbed neck
- Low posterior hairline
- Prominent posterior rotated ears^[7]
Klinefelter syndrome
- Tall stature
- Greater lower limbs proportion
- Atrophic testis
- Developmental delay
- Gynecomastia^[8]
Prader-Willi syndrome

CHARGE syndrome
- Coloboma
- Heart defects (especially, tetralogy of Fallot)
- Atresia of the choanae
- Retardation of growth and development
- Genital underdevelopment
- Ear abnormalities^[10]
Septo-optic dysplasia^[11]
- Visual impairment
- Nystagmus
- Recurrent seizures (epilepsy)
- Abnormal movements

References

↑ ^1.0 ^1.1 Palmert, Mark R.; Dunkel, Leo (2012). “Delayed Puberty”. New England Journal of Medicine. 366 (5): 443–453. doi:10.1056/NEJMcp1109290. ISSN 0028-4793.
↑ http://smithperiod6.wikispaces.com/Klinefelter’s+Syndrome [CC BY-SA 3.0 (http://creativecommons.org/licenses/by-sa/3.0) or Attribution]
↑ By Fanny Cortés M1, M. Angélica Alliende R1,a, Andrés Barrios R1,2, Bianca Curotto L1,b, Lorena Santa María V1,c, Ximena Barraza O3, Ledia Troncoso A2, Cecilia Mellado S4,6, Rosa Pardo V [CC BY 4.0 (http://creativecommons.org/licenses/by/4.0)]
↑ By Kim D Blake, Chitra Prasad [CC BY 2.0 (http://creativecommons.org/licenses/by/2.0)]
↑ Marshall WA, Tanner JM (1969). “Variations in pattern of pubertal changes in girls”. Arch Dis Child. 44 (235): 291–303. PMC 2020314. PMID 5785179.
↑ Rugarli EI, Ballabio A (1993). “Kallmann syndrome. From genetics to neurobiology”. JAMA. 270 (22): 2713–6. PMID 8133589.
↑ Simpson JL, Rajkovic A (1999). “Ovarian differentiation and gonadal failure”. Am. J. Med. Genet. 89 (4): 186–200. PMID 10727994.
↑ Smyth CM, Bremner WJ (1998). “Klinefelter syndrome”. Arch. Intern. Med. 158 (12): 1309–14. PMID 9645824.
↑ 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.
↑ “CHARGE syndrome – Genetics Home Reference”.
↑ “septo-optic dysplasia – Genetics Home Reference”.

Overview