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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.
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.
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
Decreased circulating follicle stimulating hormone concentration
MedGen UID:
892977
Concept ID:
C4072889
Finding
A reduction of the circulating level of follicle-stimulating hormone (FSH).
Decreased circulating luteinizing hormone level
MedGen UID:
893008
Concept ID:
C4072890
Finding
A reduction in the circulating level of luteinizing hormone (LH).
Decreased serum testosterone concentration
MedGen UID:
892974
Concept ID:
C4073137
Finding

Professional guidelines

PubMed

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
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
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

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
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
Howard SR, Dunkel L
Endocr Rev 2019 Oct 1;40(5):1285-1317. doi: 10.1210/er.2018-00248. PMID: 31220230Free PMC Article
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
Zhu J, Chan YM
Pediatrics 2017 Jun;139(6) Epub 2017 May 18 doi: 10.1542/peds.2016-3177. PMID: 28562264Free PMC Article

Diagnosis

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
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
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
Howard SR, Dunkel L
Endocr Rev 2019 Oct 1;40(5):1285-1317. doi: 10.1210/er.2018-00248. PMID: 31220230Free PMC Article
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

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
Mason KA, Schoelwer MJ, Rogol AD
Endocr Rev 2020 Jun 1;41(3) doi: 10.1210/endrev/bnaa003. PMID: 32115641
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

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
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
Howard SR, Dunkel L
Endocr Rev 2019 Oct 1;40(5):1285-1317. doi: 10.1210/er.2018-00248. PMID: 31220230Free PMC Article
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
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

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
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
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
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
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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