Idiopathic Central Precocious Puberty Associated with 11 Mb<i>De Novo</i>Distal Deletion of the Chromosome 9 Short Arm

Cisternino, Mariangela; Mina, Erika Della; Losa, Laura; Madè, Alexandra; Rossetti, Giulia; Bassi, Lorenzo Andrea; Pieri, Giovanni; Bayindir, Baran; Messa, Jole; Zuffardi, Orsetta; Ciccone, Roberto

doi:10.1155/2013/978087

Cited by 6 publications

(4 citation statements)

References 17 publications

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“…Such associations were found in this study for patients with Silver-Russell and Temple syndromes (maternal uniparental disomy of chromosome 7 and paternal imprinted disruption or maternal uniparental disomy on chromosome 14, respectively) (42), Williams-Beuren syndrome (7q11.23 microdeletion) (17) and Kabuki syndrome (MLL2 gene mutation) (18). In other chromosomal abnormalities, incidental association could not be excluded, but rare clinical cases have already been reported (15,16,43).…”

Section: Discussionsupporting

confidence: 50%

High prevalence of syndromic disorders in patients with non-isolated central precocious puberty

Wannes

Elmaleh‐Bergès

Simon

et al. 2018

European Journal of Endocrinology

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Objective Non-idiopathic CPP is caused by acquired or congenital hypothalamic lesions visible on MRI or is associated with various complex genetic and/or syndromic disorders. This study investigated the different types and prevalence of non-isolated CPP phenotypes. Design and Methods This observational cohort study included all patients identified as having non-idiopathic CPP in the database of a single academic pediatric care center over a period of 11.5 years. Patients were classified on the basis of MRI findings for the CNS as having either hypothalamic lesions or complex syndromic phenotypes without structural lesions of the hypothalamus. Results In total, 63 consecutive children (42 girls and 21 boys) with non-isolated CPP were identified. Diverse diseases were detected, and the hypothalamic lesions visible on MRI (n = 28, 45% of cases) included hamartomas (n = 17; either isolated or with an associated syndromic phenotype), optic gliomas (n = 8; with or without neurofibromatosis type 1), malformations (n = 3) with interhypothalamic adhesions (n = 2; isolated or associated with syndromic CNS midline abnormalities, such as optic nerve hypoplasia, ectopic posterior pituitary) or arachnoid cysts (n = 1). The patients with non-structural hypothalamic lesions (n = 35, 55% of cases) had narcolepsy (n = 9), RASopathies (n = 4), encephalopathy or autism spectrum disorders with or without chromosomal abnormalities (n = 15) and other complex syndromic disorders (n = 7). Conclusion Our findings suggest that a large proportion (55%) of patients with non-isolated probable non-idiopathic CPP may have complex disorders without structural hypothalamic lesions on MRI. Future studies should explore the pathophysiological relevance of the mechanisms underlying CPP in these disorders.

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Section: Discussionsupporting

confidence: 50%

High prevalence of syndromic disorders in patients with non-isolated central precocious puberty

Wannes

Elmaleh‐Bergès

Simon

et al. 2018

European Journal of Endocrinology

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“…Distinct chromosomal abnormalities have been associated with complex syndromic phenotypes, including CPP, such as 1p36 deletion [45], 1q11.23 microdeletion (Williams-Beuren syndrome) [46], 9p deletion [47], and maternal uniparental disomy of chromosomes 7 (Silver-Russell syndrome) and 14 (Temple syndrome) [34,48]. Interestingly, chromosome 7 and 14 maternal uniparental disomies are genomic imprinting disorders like the Prader-Willi syndrome.…”

Section: Potential Imprinting Defects In Cppmentioning

confidence: 99%

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

2014

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A pivotal event in the onset of puberty in humans is the reemergence of the pulsatile release of the gonadotropin-releasing hormone (GnRH) from hypothalamic neurons. Pathways governing GnRH ontogeny and physiology have been discovered by studying animal models and humans with reproductive disorders. Recent human studies implicated the activation of kisspeptin and its cognate receptor (KISS1/KISS1R) and the inactivation of MKRN3 in the premature reactivation of GnRH secretion, causing central precocious puberty (CPP). MKRN3, an imprinted gene located on the long arm of chromosome 15, encodes makorin ring finger protein 3, which is involved in ubiquitination and cell signaling. The MKRN3 protein is derived only from RNA transcribed from the paternally inherited copy of the gene due to maternal imprinting. Currently, MKRN3 defects represent the most frequent known genetic cause of familial CPP. In this review, we explored the clinical, hormonal and genetic aspects of children with sporadic or familial CPP caused by mutations in the kisspeptin and MKRN3 systems, essential genetic factors for pubertal timing.

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“…Chromosomal abnormalities were found in 4 patients (among 8 evaluated) of 25 (16%) of the present series: chromosome duplication of 11, 15 ( n = 2) and 17. Cases of precocious or early puberty associated with chromosomal abnormalities have been reported (Table 3): deletion (23–25) or duplication (28) of 9p, deletion of 1p36 (26), 46,XX/69XXX mixoploidy (27), triple X syndrome (28), duplication or inversion duplication of 15 (29), or maternal uniparental disomy for chromosome 14 (30). These data suggested that performing a karyotype analysis should be recommended for patients with precocious or early puberty and associated disorders without any obvious etiology (primarily tumor or neurofibromatosis).…”

Section: Discussionmentioning

confidence: 99%

Precocious and Early Central Puberty in Children With Pre-existing Medical Conditions: A Single Center Study

2019

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Background: Precocious and early puberty are reported findings in children with pre-existing medical conditions including certain syndromes. Series pertaining to such situations are limited. Methods: A retrospective, single-center study was conducted on children with central precocious puberty (onset before the age of 8 years in girls and 9 years in boys) or early puberty (onset between 8 and 9 years in girls and between 9 and 10.5 years in boys) diagnosed on the background of a known pre-existing chronic significant medical condition. Patients with a CNS tumor and those exposed to cranial irradiation were excluded. Results: Precocious puberty was diagnosed in 13 patients and early puberty in 12. Mean age at onset of puberty was 6.65 ± 2.3 years in girls ( n = 15) and 9.4 ± 0.84 years in boys ( n = 10). The most common disorders were psychomotor delay ( n = 12), psychiatric disorders ( n = 7) and/or epilepsy ( n = 5). Precocious or early puberty was among the symptoms experienced by patients with a variety of syndromes including lipofuscinosis (2 siblings), Dravet syndrome and Silver-Russel syndrome. Pituitary stalk interruption with agenesis of olfactory bulbs and optic nerve atrophy was found on imaging in one patient who presented with blindness, epilepsy, and autism spectrum disorder. The other diseases associated with precocious or early puberty are adrenocorticotropic deficiency, dyspraxia and bone abnormalities, glomerulopathy with complete renal failure, and repeated intra-fetal deaths in the mother. Karyotype analysis revealed chromosomal duplication (chromosome 15 in 2 cases; chromosomes 17 and 11 in one case each) in 4 of 8 patients evaluated. Conclusions: Data from patients with complex disease who experience precocious or early puberty may provide clues regarding the genetic determinants of pubertal development.

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Idiopathic Central Precocious Puberty Associated with 11 MbDe NovoDistal Deletion of the Chromosome 9 Short Arm

Cited by 6 publications

References 17 publications

High prevalence of syndromic disorders in patients with non-isolated central precocious puberty

High prevalence of syndromic disorders in patients with non-isolated central precocious puberty

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

Precocious and Early Central Puberty in Children With Pre-existing Medical Conditions: A Single Center Study

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