New Causes of Central Precocious Puberty: The Role of Genetic Factors

Macedo, Delanie B.; Brito, Vinícius Nahime; Latrônico, Ana Claudia

doi:10.1159/000366282

Cited by 67 publications

(45 citation statements)

References 48 publications

(86 reference statements)

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“…The main etiologies of CPP are listed in Table 1 (10)(11)(12)(13)(14)(15). Idiopathic CPP represents 90% of the cases in girls, whereas organic etiologies are more frequent (60% to 70%) in boys.…”

Section: Central Precocious Puberty Etiologymentioning

confidence: 99%

“…MKRN3 has a potential inhibitory effect on GnRH secretion and inactivating MKRN3 mutations have been identified in families from several geographical origins (12). In fact, MKRN3 represents the most common genetic cause of CPP (Table 1).…”

Section: Molecular Studiesmentioning

confidence: 99%

“…In fact, MKRN3 represents the most common genetic cause of CPP (Table 1). In familial CPP, MKRN3 defects were found in about 30% of families (45) while in patients with apparently sporadic CPP, MKRN3 defects were detected in about 8% of cases (12). In theses cases, genetic counseling should be considered in affected patients and their families.…”

Section: Molecular Studiesmentioning

confidence: 99%

See 2 more Smart Citations

Central precocious puberty: revisiting the diagnosis and therapeutic management

Brito

Spinola-Castro

Kochi

et al. 2016

Arch. Endocrinol. Metab.

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Clinical and laboratory diagnosis and treatment of central precocious puberty (CPP) remain challenging due to lack of standardization. The aim of this revision was to address the diagnostic and therapeutic features of CPP in Brazil based on relevant international literature and availability of the existing therapies in the country. The diagnosis of CPP is based mainly on clinical and biochemical parameters, and a period of follow-up is desirable to define the "progressive" form of sexual precocity. This occurs due to the broad spectrum of pubertal development, including isolated premature thelarche, constitutional growth and puberty acceleration, progressive and nonprogressive CPP, and early puberty. Measurement of basal and stimulated LH levels remains challenging, considering that the levels are not always in the pubertal range at baseline, short-acting GnRH is not readily available in Brazil, and the cutoff values differ according to the laboratory assay. When CPP is suspected but basal LH values are at prepubertal range, a stimulation test with short-acting or long-acting monthly GnRH is a diagnostic option. In Brazil, the treatment of choice for progressive CPP and early puberty is a long-acting GnRH analog (GnRHa) administered once a month or every 3 months. In Brazil, formulations of GnRHa (leuprorelin and triptorelin) are available and commonly administered, including 1-month depot leuprorelin 3.75 mg and 7.5 mg, 1-month depot triptorelin 3.75 mg, and 3-month depot leuprorelin 11.25 mg. Monthly or 3-month depot GnRHa are effective and safe to treat CPP. Arch Endocrinol Metab. 2016;60(2):163-72

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Section: Central Precocious Puberty Etiologymentioning

confidence: 99%

Section: Molecular Studiesmentioning

confidence: 99%

Section: Molecular Studiesmentioning

confidence: 99%

See 1 more Smart Citation

Central precocious puberty: revisiting the diagnosis and therapeutic management

Brito

Spinola-Castro

Kochi

et al. 2016

Arch. Endocrinol. Metab.

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“…In the great majority of girls with CPP, no hypothalamic tumors or lesions are detected. Recently, mutations in the kisspeptin and MKRN3 systems have been implicated in sporadic or familiar CPP [2]. Depot gonadotropin-releasing hormone (GnRH) analogues (GnRHa) represent the first-line therapy for patients with CPP.…”

Section: Introductionmentioning

confidence: 99%

Assessment of Estradiol Response after Depot Triptorelin Administration in Girls with Central Precocious Puberty

Freire

Gryngarten²,

Ballerini³

et al. 2015

Horm Res Paediatr

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Background: Estradiol at baseline or after a classical gonadotropin-releasing hormone test did not reflect ovarian steroidogenesis in central precocious puberty (CPP) girls. Aims: To evaluate estradiol response to depot triptorelin, both at start and during therapy to determine how active ovarian steroidogenesis is at pubertal stage and under therapy. Methods: A prospective study was performed in 43 CPP girls. Serum luteinizing hormone and follicle-stimulating hormone at 3 h (LH-3h, FSH-3h) and estradiol at 24 h (E₂-24h) after injection of depot triptorelin 3.75 mg were measured, at first dose and at 3, 6, 12, 18 and 24 months of treatment. Results: E₂-24h after depot triptorelin was >100 pg/ml after the first dose. Estradiol response (E₂-24h) fell to levels <14 pg/ml in 78 out of 82 follow-up visits along 2 years of therapy. Concomitantly, LH-3h and FSH-3h were <4.0 and <6.3 IU/l, respectively. In 4 patients with inadequate treatment, E₂-24h, LH-3h and FSH-3h rose to pubertal values similar to those observed at first dose. Conclusion: Estradiol (<14 pg/ml) assessment 24 h after depot triptorelin administration is a reliable and simple manner to confirm ovarian suppression in CPP girls during treatment.

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“…The onset of puberty in humans is thought to be the result of an increase in the amplitude and frequency of the pulsatile secretion of GnRH that, by way of GnRH selfpriming, results in increased gonadotrophin secretion (Richter & Terasawa 2001, Abreu et al 2013, Macedo et al 2014. Premature activation of the hypothalamicpituitary-gonadal axis results in CPP, which is thought to reflect premature activity of the GnRH pulse generator and GnRH self-priming.…”

Section: G Finkmentioning

confidence: 99%

60 YEARS OF NEUROENDOCRINOLOGY: MEMOIR: Harris' neuroendocrine revolution: of portal vessels and self-priming

Fink¹

2015

Journal of Endocrinology

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Geoffrey Harris, while still a medical student at Cambridge, was the first researcher (1937) to provide experimental proof for the then tentative view that the anterior pituitary gland was controlled by the CNS. The elegant studies carried out by Harris in the 1940s and early 1950s, alone and in collaboration with John Green and Dora Jacobsohn, established that this control was mediated by a neurohumoral mechanism that involved the transport by hypophysial portal vessel blood of chemical substances from the hypothalamus to the anterior pituitary gland. The neurohumoral control of anterior pituitary secretion was proved by the isolation and characterisation of the 'chemical substances' (mainly neuropeptides) and the finding that these substances were released into hypophysial portal blood in a manner consistent with their physiological functions. The new discipline of neuroendocrinology -the way that the brain controls endocrine glands and vice versa -revolutionised the treatment of endocrine disorders such as growth and pubertal abnormalities, infertility and hormone-dependent tumours, and it underpins our understanding of the sexual differentiation of the brain and key aspects of behaviour and mental disorder. Neuroendocrine principles are illustrated in this Thematic Review by way of Harris' major interest: hypothalamic-pituitary-gonadal control. Attention is focussed on the measurement of GnRH in hypophysial portal blood and the role played by the self-priming effect of GnRH in promoting the onset of puberty and enabling the oestrogen-induced surge or pulses of GnRH to trigger the ovulatory gonadotrophin surge in humans and other spontaneously ovulating mammals.

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New Causes of Central Precocious Puberty: The Role of Genetic Factors

Cited by 67 publications

References 48 publications

Central precocious puberty: revisiting the diagnosis and therapeutic management

Central precocious puberty: revisiting the diagnosis and therapeutic management

Assessment of Estradiol Response after Depot Triptorelin Administration in Girls with Central Precocious Puberty

60 YEARS OF NEUROENDOCRINOLOGY: MEMOIR: Harris' neuroendocrine revolution: of portal vessels and self-priming

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