Delayed puberty causes

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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

Delayed puberty may be caused by endocrinologic or genetic causes. The most common endocrinologic causes of delayed puberty are hypothalamus-pituitary-gonadal (HPG) axis disorders. The most common genetic cause of delayed puberty is Kallmann syndrome. There are various genes that may be related to delayed puberty, among which the kisspeptin system genes (KISS1 and KISS1R) are the most important genes.

Causes

Life-threatening Causes

Life-threatening causes include conditions which may result in death or permanent disability within 24 hours if left untreated. There are no life-threatening causes of delayed puberty, however, complications resulting from untreated delayed puberty are common.

Common Causes

Delayed puberty may be caused by:^[1]

Mumps
Cryptorchidism
Turner syndrome
Testicular trauma
Testicular torsion
Sickle cell disease
Thalassemia
Kallmann syndrome
Isolated hypogonadotropic hypogonadism
Hypothalamus-pituitary-gonadal (HPG) Axis development disorder
Obesity and hypogonadotropic hypogonadism
Cystic fibrosis
Asthma
Inflammatory bowel disease
Celiac disease
Diabetes mellitus
Excessive exercise
Malnutrition

Less Common Causes

Less common causes of disease name are including:^[1]

Noonan syndrome and related disorders
Fragile X premutation
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

Genetic Causes

Delayed puberty is caused by a mutation in the following genes:^[2]

Kisspeptin system (KISS1R and KISS1)
Kallmann syndrome 1 (KAL1)
Fibroblast growth factor receptor 1 (FGFR1)
Fibroblast growth factor 8 (FGF8)
Heparan sulfate 6-O-sulphotransferase 1 (HS6ST1)
Prokineticin 2 (PROK2)
Prokineticin 2 receptor (PROKR2)
Tachykinin 3 (TAC3)
Tachykinin 3 receptor (TACR3)
Gonadotropin releasing hormone (GnRH1)
Gonadotropin releasing hormone receptor (GnRHR)
Chromodomain helicase DNA-binding protein 7 (CHD7)
Nasal embryonic LH-releasing hormone factor (NELF)
Early B-cell factor 2 (EBF2)
DSS-AHC on the X-chromosome 1 (DAX1)
Steroidogenic factor 1 (SF1)
Homeobox gene 1 (HESX1)
LIM homeobox gene 3 (LHX3)
PROP paired-like homeobox 1 (PROP1)
Leptin (LEP)
Leptin receptor (LEPR)
Proprotein convrtase 1 (PC1)
Makorin RING-finger protein 3 (MKRN3)
Estrogen receptor α (ESR1)

Causes by Organ System

Cardiovascular	CHARGE syndrome
Chemical/Poisoning	No underlying causes
Dental	No underlying causes
Dermatologic	No underlying causes
Drug Side Effect	Chemotherapy
Ear Nose Throat	Mumps, Rathke pouch cyst, CHARGE syndrome, Septo-optic dysplasia
Endocrine	Isolated hypogonadotropic hypogonadism, Hypothalamus-pituitary-gonadal (HPG) Axis development disorder, Diabetes mellitus, Congenital lipoid adrenal hyperplasia, Androgen insensitivity, Sertoli cell only syndrome (Del Castillo syndrome), Craniopharyngioma, Prolactinoma, Prader-Willi syndrome, Bardet-Biedl syndrome, CHARGE syndrome, Congenital hypopituitarism, Hypothyroidism, Hyperprolactinemia, Growth hormone deficiency, Cushing syndrome
Environmental	Excessive exercise, Chemotherapy, Radiation therapy
Gastroenterologic	Inflammatory bowel disease, Celiac disease
Genetic	Turner syndrome, Kallmann syndrome, Cystic fibrosis, Noonan syndrome, Fragile X premutation, Vanishing testes syndrome, Galactosemia, 5-alpha reductase deficiency, 17,20-lyase deficiency, Congenital lipoid adrenal hyperplasia, Androgen insensitivity, Sertoli cell only syndrome (Del Castillo syndrome), Prader-Willi syndrome, Bardet-Biedl syndrome, Gaucher disease
Hematologic	Sickle cell disease, Thalassemia, Langerhans cell histiocytosis, Hemosiderosis, AIDS
Iatrogenic	Chemotherapy, Radiation therapy
Infectious Disease	Mumps, Coxsackie virus, AIDS
Musculoskeletal/Orthopedic	Juvenile rheumatoid arthritis
Neurologic	Astrocytoma, Glioma, Post central nervous system infection
Nutritional/Metabolic	Malnutrition, Obesity, 5-alpha reductase deficiency, Anorexia nervosa, Bulimia
Obstetric/Gynecologic	Hypothalamus-pituitary-gonadal (HPG) Axis development disorder, Isolated hypogonadotropic hypogonadism
Oncologic	Astrocytoma, Germinoma, Glioma, Craniopharyngioma, Prolactinoma
Ophthalmologic	Bardet-Biedl syndrome, CHARGE syndrome, Septo-optic dysplasia
Overdose/Toxicity	No underlying causes
Psychiatric	Anorexia nervosa, Bulimia
Pulmonary	Asthma, Cystic fibrosis
Renal/Electrolyte	Congenital lipoid adrenal hyperplasia, Chronic renal disease
Rheumatology/Immunology/Allergy	Autoimmune oophiritis, Autoimmune orchitis, Langerhans cell histiocytosis, Juvenile rheumatoid arthritis
Sexual	AIDS
Trauma	Testicular trauma
Urologic	Cryptorchidism, Testicular torsion, Gonadal dysgenesis, Vanishing testes syndrome, Germinoma, CHARGE syndrome
Miscellaneous	Excessive exercise

Causes in Alphabetical Order

List the causes of the disease in alphabetical order.

5-alpha reductase deficiency
17,20-lyase deficiency
AIDS
Androgen insensitivity
Anorexia nervosa
Asthma
Astrocytoma
Autoimmune oophiritis
Autoimmune orchitis
Bardet-Biedl syndrome
Bulimia
Celiac disease
CHARGE syndrome
Chemotherapy
Chromodomain helicase DNA-binding protein 7 (CHD7)
Chronic renal disease
Congenital hypopituitarism
Congenital lipoid adrenal hyperplasia
Coxsackie virus
Craniopharyngioma
Cryptorchidism
Cushing syndrome
Cystic fibrosis
Diabetes mellitus
DSS-AHC on the X-chromosome 1 (DAX1)
Early B-cell factor 2 (EBF2)
Estrogen receptor α (ESR1)
Excessive exercise
Fibroblast growth factor 8 (FGF8)
Fibroblast growth factor receptor 1 (FGFR1)
Fragile X premutation
Galactosemia
Gaucher disease
Germinoma
Glioma
Gonadal dysgenesis
Gonadotropin releasing hormone (GnRH1)
Gonadotropin releasing hormone receptor (GnRHR)
Growth hormone deficiency
Hemosiderosis
Heparan sulfate 6-O-sulphotransferase 1 (HS6ST1)
Homeobox gene 1 (HESX1)
Hyperprolactinemia
Hypothalamus-pituitary-gonadal (HPG) Axis development disorder
Hypothyroidism
Inflammatory bowel disease
Isolated hypogonadotropic hypogonadism
Juvenile rheumatoid arthritis
Kallmann syndrome
Kallmann syndrome 1 (KAL1) gene
Kisspeptin system (KISS1R and KISS1)
Langerhans cell histiocytosis
Leptin (LEP)
Leptin receptor (LEPR)
LIM homeobox gene 3 (LHX3)
Makorin RING-finger protein 3 (MKRN3)
Malnutrition
Mumps
Nasal embryonic LH-releasing hormone factor (NELF)
Noonan syndrome and related disorders
Obesity and hypogonadotropic hypogonadism
Post central nervous system infection
Prader-Willi syndrome
Prokineticin 2 (PROK2)
Prokineticin 2 receptor (PROKR2)
Prolactinoma
Proprotein convrtase 1 (PC1)
PROP paired-like homeobox 1 (PROP1)
Radiation therapy
Rathke pouch cyst
Septo-optic dysplasia
Sertoli cell only syndrome (Del Castillo syndrome)
Sickle cell disease
Steroidogenic factor 1 (SF1)
Tachykinin 3 (TAC3)
Tachykinin 3 receptor (TACR3)
Testicular torsion
Testicular trauma
Thalassemia
Turner syndrome
Vanishing testes syndrome

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.
↑ Bonomi M, Libri DV, Guizzardi F, Guarducci E, Maiolo E, Pignatti E, Asci R, Persani L (2012). "New understandings of the genetic basis of isolated idiopathic central hypogonadism". Asian J. Androl. 14 (1): 49–56. doi:10.1038/aja.2011.68. PMC 3735150. PMID 22138902.

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[PalmertDunkel2012-1] 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.

[pmid22138902-2] Bonomi M, Libri DV, Guizzardi F, Guarducci E, Maiolo E, Pignatti E, Asci R, Persani L (2012). "New understandings of the genetic basis of isolated idiopathic central hypogonadism". Asian J. Androl. 14 (1): 49–56. doi:10.1038/aja.2011.68. PMC 3735150. PMID 22138902.

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