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

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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

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### Life-threatening Causes

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* 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

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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

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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

* Langerhans cell histiocytosis
* Rathke pouch cyst
* Prader-Willi syndrome
* Bardet-Biedl syndrome
* CHARGE syndrome
* Gaucher disease
* Post central nervous system infection
* Septo-optic dysplasia
* Congenital hypopituitarism
* Chemotherapy
* Radiation therapy
* Juvenile rheumatoid arthritis
* Anorexia nervosa

* Bulimia
* Hemosiderosis
* Chronic renal disease
* AIDS
* Hypothyroidism
* Hyperprolactinemia
* Growth hormone deficiency
* Cushing syndrome

### Genetic Causes

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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

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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

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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

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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.
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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