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Delayed puberty, self-limited(DPSL)

MedGen UID:
1789612
•Concept ID:
C2874202
•
Disease or Syndrome
Synonym: CONSTITUTIONAL DELAY OF PUBERTY
 
Gene (location): LGR4 (11p14.1)
 
Monarch Initiative: MONDO:0859205
OMIM®: 619613

Definition

Self-limited delayed puberty (DPSL) is characterized by delayed development of Tanner stage G2 accompanied by low serum gonadotropins. Affected individuals experience spontaneous attainment of Tanner stage G4 by 18 years of age, with normalization of gonadotropins, which excludes a diagnosis of hypogonadotropic hypogonadism (see 147950) (Mancini et al., 2020). [from OMIM]

Clinical features

From HPO
Delayed skeletal maturation
MedGen UID:
108148
•Concept ID:
C0541764
•
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
See: Feature record | Search on this feature
Delayed puberty
MedGen UID:
46203
•Concept ID:
C0034012
•
Pathologic Function
Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
See: Feature record | Search on this feature
Hypogonadotropic hypogonadism
MedGen UID:
82883
•Concept ID:
C0271623
•
Disease or Syndrome
Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones
See: Feature record | Search on this feature
Decreased circulating follicle stimulating hormone concentration
MedGen UID:
892977
•Concept ID:
C4072889
•
Finding
A reduction of the circulating level of follicle-stimulating hormone (FSH).
See: Feature record | Search on this feature
Decreased circulating luteinizing hormone level
MedGen UID:
893008
•Concept ID:
C4072890
•
Finding
A reduction in the circulating level of luteinizing hormone (LH).
See: Feature record | Search on this feature
Decreased serum testosterone concentration
MedGen UID:
892974
•Concept ID:
C4073137
•
Finding
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Genetic evaluation supports differential diagnosis in adolescent patients with delayed puberty.
Saengkaew T, Patel HR, Banerjee K, Butler G, Dattani MT, McGuigan M, Storr HL, Willemsen RH, Dunkel L, Howard SR
Eur J Endocrinol 2021 Oct 8;185(5):617-627. doi: 10.1530/EJE-21-0387. PMID: 34403359Free PMC Article
Genetic Evaluation of Patients With Delayed Puberty and Congenital Hypogonadotropic Hypogonadism: Is it Worthy of Consideration?
Festa A, Umano GR, Miraglia Del Giudice E, Grandone A
Front Endocrinol (Lausanne) 2020;11:253. Epub 2020 May 19 doi: 10.3389/fendo.2020.00253. PMID: 32508745Free PMC Article
Management of hypogonadism from birth to adolescence.
Howard SR, Dunkel L
Best Pract Res Clin Endocrinol Metab 2018 Aug;32(4):355-372. Epub 2018 Jun 6 doi: 10.1016/j.beem.2018.05.011. PMID: 30086863

Recent clinical studies

Etiology

Key features of puberty onset and progression can help distinguish self-limited delayed puberty from congenital hypogonadotrophic hypogonadism.
Aung Y, Kokotsis V, Yin KN, Banerjee K, Butler G, Dattani MT, Dimitri P, Dunkel L, Hughes C, McGuigan M, Korbonits M, Paltoglou G, Sakka S, Shah P, Storr HL, Willemsen RH, Howard SR
Front Endocrinol (Lausanne) 2023;14:1226839. Epub 2023 Aug 28 doi: 10.3389/fendo.2023.1226839. PMID: 37701896Free PMC Article
Approaches to Identify Factors Associated with Pubertal Timing in Self-Limited Delayed Puberty.
Zhu J, Liu E, Feld A, Jonsdottir-Lewis E, Shirey A, Feldman HA, Astley CM, Chan YM
Horm Res Paediatr 2023;96(3):267-277. Epub 2022 Aug 25 doi: 10.1159/000526590. PMID: 36007499Free PMC Article
Delayed Puberty-Phenotypic Diversity, Molecular Genetic Mechanisms, and Recent Discoveries.
Howard SR, Dunkel L
Endocr Rev 2019 Oct 1;40(5):1285-1317. doi: 10.1210/er.2018-00248. PMID: 31220230Free PMC Article
HS6ST1 Insufficiency Causes Self-Limited Delayed Puberty in Contrast With Other GnRH Deficiency Genes.
Howard SR, Oleari R, Poliandri A, Chantzara V, Fantin A, Ruiz-Babot G, Metherell LA, Cabrera CP, Barnes MR, Wehkalampi K, Guasti L, Ruhrberg C, Cariboni A, Dunkel L
J Clin Endocrinol Metab 2018 Sep 1;103(9):3420-3429. doi: 10.1210/jc.2018-00646. PMID: 29931354Free PMC Article
Adult Consequences of Self-Limited Delayed Puberty.
Zhu J, Chan YM
Pediatrics 2017 Jun;139(6) Epub 2017 May 18 doi: 10.1542/peds.2016-3177. PMID: 28562264Free PMC Article

Diagnosis

Genetic architecture of self-limited delayed puberty and congenital hypogonadotropic hypogonadism.
Vezzoli V, Hrvat F, Goggi G, Federici S, Cangiano B, Quinton R, Persani L, Bonomi M
Front Endocrinol (Lausanne) 2022;13:1069741. Epub 2023 Jan 16 doi: 10.3389/fendo.2022.1069741. PMID: 36726466Free PMC Article
Genetic Evaluation of Patients With Delayed Puberty and Congenital Hypogonadotropic Hypogonadism: Is it Worthy of Consideration?
Festa A, Umano GR, Miraglia Del Giudice E, Grandone A
Front Endocrinol (Lausanne) 2020;11:253. Epub 2020 May 19 doi: 10.3389/fendo.2020.00253. PMID: 32508745Free PMC Article
Constitutional delay of puberty versus congenital hypogonadotropic hypogonadism: Genetics, management and updates.
Raivio T, Miettinen PJ
Best Pract Res Clin Endocrinol Metab 2019 Jun;33(3):101316. Epub 2019 Sep 5 doi: 10.1016/j.beem.2019.101316. PMID: 31522908
Delayed Puberty-Phenotypic Diversity, Molecular Genetic Mechanisms, and Recent Discoveries.
Howard SR, Dunkel L
Endocr Rev 2019 Oct 1;40(5):1285-1317. doi: 10.1210/er.2018-00248. PMID: 31220230Free PMC Article
Management of hypogonadism from birth to adolescence.
Howard SR, Dunkel L
Best Pract Res Clin Endocrinol Metab 2018 Aug;32(4):355-372. Epub 2018 Jun 6 doi: 10.1016/j.beem.2018.05.011. PMID: 30086863

Therapy

Approaches to Identify Factors Associated with Pubertal Timing in Self-Limited Delayed Puberty.
Zhu J, Liu E, Feld A, Jonsdottir-Lewis E, Shirey A, Feldman HA, Astley CM, Chan YM
Horm Res Paediatr 2023;96(3):267-277. Epub 2022 Aug 25 doi: 10.1159/000526590. PMID: 36007499Free PMC Article
Androgens During Infancy, Childhood, and Adolescence: Physiology and Use in Clinical Practice.
Mason KA, Schoelwer MJ, Rogol AD
Endocr Rev 2020 Jun 1;41(3) doi: 10.1210/endrev/bnaa003. PMID: 32115641
Management of hypogonadism from birth to adolescence.
Howard SR, Dunkel L
Best Pract Res Clin Endocrinol Metab 2018 Aug;32(4):355-372. Epub 2018 Jun 6 doi: 10.1016/j.beem.2018.05.011. PMID: 30086863

Prognosis

Genetic evaluation supports differential diagnosis in adolescent patients with delayed puberty.
Saengkaew T, Patel HR, Banerjee K, Butler G, Dattani MT, McGuigan M, Storr HL, Willemsen RH, Dunkel L, Howard SR
Eur J Endocrinol 2021 Oct 8;185(5):617-627. doi: 10.1530/EJE-21-0387. PMID: 34403359Free PMC Article
Homozygous p.R31H GNRH1 mutation and normosmic congenital hypogonadotropic hypogonadism in a patient and self-limited delayed puberty in his relatives.
Brachet C, Gernay C, Boros E, Soblet J, Vilain C, Heinrichs C
J Pediatr Endocrinol Metab 2020 Sep 25;33(9):1237-1240. doi: 10.1515/jpem-2020-0207. PMID: 32813678
Delayed Puberty-Phenotypic Diversity, Molecular Genetic Mechanisms, and Recent Discoveries.
Howard SR, Dunkel L
Endocr Rev 2019 Oct 1;40(5):1285-1317. doi: 10.1210/er.2018-00248. PMID: 31220230Free PMC Article
Management of hypogonadism from birth to adolescence.
Howard SR, Dunkel L
Best Pract Res Clin Endocrinol Metab 2018 Aug;32(4):355-372. Epub 2018 Jun 6 doi: 10.1016/j.beem.2018.05.011. PMID: 30086863
Fertility Issues for Patients with Hypogonadotropic Causes of Delayed Puberty.
Zhu J, Chan YM
Endocrinol Metab Clin North Am 2015 Dec;44(4):821-34. Epub 2015 Sep 10 doi: 10.1016/j.ecl.2015.07.011. PMID: 26568495

Clinical prediction guides

Key features of puberty onset and progression can help distinguish self-limited delayed puberty from congenital hypogonadotrophic hypogonadism.
Aung Y, Kokotsis V, Yin KN, Banerjee K, Butler G, Dattani MT, Dimitri P, Dunkel L, Hughes C, McGuigan M, Korbonits M, Paltoglou G, Sakka S, Shah P, Storr HL, Willemsen RH, Howard SR
Front Endocrinol (Lausanne) 2023;14:1226839. Epub 2023 Aug 28 doi: 10.3389/fendo.2023.1226839. PMID: 37701896Free PMC Article
Approaches to Identify Factors Associated with Pubertal Timing in Self-Limited Delayed Puberty.
Zhu J, Liu E, Feld A, Jonsdottir-Lewis E, Shirey A, Feldman HA, Astley CM, Chan YM
Horm Res Paediatr 2023;96(3):267-277. Epub 2022 Aug 25 doi: 10.1159/000526590. PMID: 36007499Free PMC Article
Genetic evaluation supports differential diagnosis in adolescent patients with delayed puberty.
Saengkaew T, Patel HR, Banerjee K, Butler G, Dattani MT, McGuigan M, Storr HL, Willemsen RH, Dunkel L, Howard SR
Eur J Endocrinol 2021 Oct 8;185(5):617-627. doi: 10.1530/EJE-21-0387. PMID: 34403359Free PMC Article
Management of hypogonadism from birth to adolescence.
Howard SR, Dunkel L
Best Pract Res Clin Endocrinol Metab 2018 Aug;32(4):355-372. Epub 2018 Jun 6 doi: 10.1016/j.beem.2018.05.011. PMID: 30086863
HS6ST1 Insufficiency Causes Self-Limited Delayed Puberty in Contrast With Other GnRH Deficiency Genes.
Howard SR, Oleari R, Poliandri A, Chantzara V, Fantin A, Ruiz-Babot G, Metherell LA, Cabrera CP, Barnes MR, Wehkalampi K, Guasti L, Ruhrberg C, Cariboni A, Dunkel L
J Clin Endocrinol Metab 2018 Sep 1;103(9):3420-3429. doi: 10.1210/jc.2018-00646. PMID: 29931354Free PMC Article

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