Delayed puberty history and symptoms
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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
The hallmark of delayed puberty is lack of testicular enlargement in boys or breast development in girls in specific stage of life. The age, in which secondary sexual characteristics are checked, is 2-2.5 SD more than the standard population average age of puberty onset. The age is 14 for boys and 13 for girls, on average. A positive family history of delayed puberty is strongly associated with delayed puberty. The most common contributing symptom of delayed puberty is anosmia or hyposmia. Less common symptoms of delayed puberty are including the symptoms related to its underlying diseases.
History and Symptoms
- The hallmark of delayed puberty is lack of testicular enlargement in boys or breast development in girls in specific stage of life. The age, in which secondary sexual characteristics are checked, is 2-2.5 SD more than the standard population average age of puberty onset. The age is 14 for boys and 13 for girls, on average. A positive family history of delayed puberty is strongly associated with delayed puberty. The most common contributing symptom of delayed puberty is anosmia or hyposmia.[1]
History
Patients with delayed puberty may have a positive history of:[1]
- Delayed puberty in family
- Anosmia
- Hyposmia
- Mumps
- Cryptorchidism
- Testicular trauma
- Testicular torsion
- Sickle cell disease
- Thalassemia
- Obesity
- Cystic fibrosis
- Asthma
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- Inflammatory bowel disease
- Celiac disease
- Diabetes mellitus
- Excessive exercise
- Malnutrition
- Gonadal dysgenesis
- Vanishing testes syndrome
- Coxsackie virus
- Galactosemia
- Autoimmune oophiritis
- Autoimmune orchitis
- 5-alpha reductase deficiency
- 17,20-lyase deficiency
- Congenital lipoid adrenal hyperplasia
- Androgen insensitivity
- Sertoli cell only syndrome (Del Castillo syndrome)
- Astrocytoma
- Germinoma
- Glioma
- Craniopharyngioma
- Prolactinoma
- Post central nervous system infection
- Congenital hypopituitarism
- Chemotherapy
- Radiation therapy
- Anorexia nervosa
- Bulimia
- Hemosiderosis
- Chronic renal disease
- AIDS
- Hypothyroidism
- Growth hormone deficiency
- Cushing syndrome
Common Symptoms
Common symptoms of delayed puberty are including:
- Lack of testicular enlargement[2]
- Testes volume less than 3 mL.
- Testicular size can be concluded by measuring its volume using Prader orchidometer or measuring its longest axis length.
- Volume of 4 mL or longest axis of 2.5 cm demonstrate the onset of puberty.
- Lack of breast development[3]
- 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
- Lack of growth spurt
- By the time of puberty onset, there is a surge in growth hormone (GH) secretion. Sex steroids also have some roles in increasing the growth rate in puberty.[4]
- The main determinant of growth rate elevation during puberty is increasing GH response due to the estrogen, either from ovary or from aromatization of testosterone produced by testes.[5]
- Growth spurt occurred in the middle to late stages of puberty.
- Most of the times, it occurs by the time of thelarche stage 3.
- It is consist of 25 cm growth in girls and 30 cm growth in boys, on average.
- Anosmia/Hyposmia
- Lack of neural tissue migration to olfactory bulbs in central nervous system (CNS) associated with Kallmann syndrome.
- Kallmann syndrome is also consisting of hypogonadotropic hypogonadism.[6]
Less Common Symptoms
Less common symptoms of delayed puberty are including the symptoms related to its underlying diseases:
- Turner's syndrome[7]
- Short stature
- Webbed neck
- Low posterior hairline
- Prominent posterior rotated ears
- Klinefelter syndrome[8]
- Tall stature
- Greater lower limbs proportion
- Atrophic testes
- Developmental delay
- Gynecomastia
- Prader-Willi syndrome[9]
- CHARGE syndrome[10]
- Coloboma
- Heart defects (especially, tetralogy of Fallot)
- Atresia of the choanae
- Retardation of growth and development
- Genital underdevelopment
- Ear abnormalities
- Septo-optic dysplasia[11]
- Optic nerve hypoplasia (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.
- ↑ Marshall WA, Tanner JM (1970). "Variations in the pattern of pubertal changes in boys". Arch Dis Child. 45 (239): 13–23. PMC 2020414. PMID 5440182.
- ↑ Marshall WA, Tanner JM (1969). "Variations in pattern of pubertal changes in girls". Arch Dis Child. 44 (235): 291–303. PMC 2020314. PMID 5785179.
- ↑ Martha PM, Rogol AD, Veldhuis JD, Kerrigan JR, Goodman DW, Blizzard RM (1989). "Alterations in the pulsatile properties of circulating growth hormone concentrations during puberty in boys". J. Clin. Endocrinol. Metab. 69 (3): 563–70. doi:10.1210/jcem-69-3-563. PMID 2760171.
- ↑ Veldhuis JD, Metzger DL, Martha PM, Mauras N, Kerrigan JR, Keenan B, Rogol AD, Pincus SM (1997). "Estrogen and testosterone, but not a nonaromatizable androgen, direct network integration of the hypothalamo-somatotrope (growth hormone)-insulin-like growth factor I axis in the human: evidence from pubertal pathophysiology and sex-steroid hormone replacement". J. Clin. Endocrinol. Metab. 82 (10): 3414–20. doi:10.1210/jcem.82.10.4317. PMID 9329378.
- ↑ 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".