Central precocious puberty in Prader-Willi syndrome: a narrative review

Nicoară, Delia-Maria; Scutca, Alexandra-Cristina; Mang, Niculina; Juganaru, Iulius; Munteanu, Andrei-Ioan; Vitan, Luiza; Mărginean, Otilia

doi:10.3389/fendo.2023.1150323

Front. Endocrinol.

2023

DOI: 10.3389/fendo.2023.1150323

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Central precocious puberty in Prader-Willi syndrome: a narrative review

Delia-Maria Nicoară,

Alexandra-Cristina Scutca,

Niculina Mang

et al.

Abstract: Prader-Willi syndrome (PWS, OMIM176270) is a rare genetic disorder with recognizable dysmorphic features and multisystemic consequences such as endocrine, neurocognitive and metabolic ones. Although most patients with Prader-Willi syndrome exhibit hypogonadotropic hypogonadism, there is variability regarding sexual maturation, with precocious puberty occurring in rare cases. Our aim is to elaborate a thorough review of Prader-Willi patients with central precocious puberty, in order to raise awareness of such c… Show more

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2024

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Cited by 3 publications

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Genotype–phenotype characteristics of 57 patients with Prader–Willi syndrome: a single-center experience from Turkey

Torun,

Akin

2024

Clinical Dysmorphology

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Objectives Prader–Willi syndrome (PWS) is a rare and complex genetic disorder caused by the loss of expression of the paternal copy of the imprinted genes on chromosome 15q11-q13. A variety of findings have been reported on the phenotypic differences between the genetic subtypes of PWS. This article compares the clinical findings of 57 PWS patients by genetic subtype and explores possible associations in this context. Methods Methylation‑specific multiplex ligation–dependent probe amplification and single nucleotide polymorphism microarrays were used to diagnose deletion and uniparental disomy (UPD). For phenotype–genotype correlation, clinical data were collected and genetic subgroups were compared statistically, and P < 0.05 was considered to indicate statistical significance. Results These 57 patients consisted of 15 type I deletions, 20 type II deletions, six atypic deletions, 11 heterodisomy UPD, four isodisomy UPD, and one translocation-type PWS. All patients had hypotonia, poor neonatal sucking, and feeding difficulties during infancy. Other PWS-related clinical findings, such as speech articulation problems (85.9%), sleep apnea (77.2%), normal birth length (71.9%), small hands/feet (71.9%), childhood polyphagia (57.9%), clinodactyly (56.1%), thick viscous saliva (54.4%), and behavioral problems (50.9%) were observed at varying rates with no statistical difference between genetic subtypes in general. Conclusion This study highlights the phenotype–genotype associations on PWS from a cohort of Turkish pediatric patients as a single-center experience.

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Genotype–phenotype characteristics of 57 patients with Prader–Willi syndrome: a single-center experience from Turkey

Torun,

Akin

2024

Clinical Dysmorphology

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Premature pubarche in Prader‐Willi syndrome: Risk factors and consequences

Griffing,

Halpin,

Lee

et al. 2024

Clinical Endocrinology

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ObjectivesChildren with Prader‐Willi Syndrome (PWS) may develop premature pubarche (PP). We investigated the frequency of PP, and its potential precursors and sequelae, in PWS.Design, Patients and MeasurementsA chart review of children with PWS treated at our institution between 1990 and 2021 was performed. PP was defined as Tanner stage 2 (TS2) pubic hair in girls <8 and boys <9 years old. Demographic, anthropometric, and laboratory data were collected to assess predisposing factors and consequences of PP in comparison to patients with PWS who had normal pubarche (NP).ResultsAnalysis included 43 children with PWS, 23 (53.5%) with PP and 20 (46.5%) with NP. Median age at pubarche was 7.0 years in PP group and 10.0 years in NP group. Age at pubarche was not correlated with age of recombinant human growth hormone (rhGH) initiation, body mass index (BMI) z‐score, or homeostasis model assessment of insulin resistance (HOMA‐IR) at pubarche. BMI z‐score at pubarche was modestly correlated with degree of pubarchal BA advancement (p = 0.033). Those with PP were more likely to have a lower high‐density lipoprotein (HDL) (1.05 mmol/L vs. 1.41 mmol/L in the NP group, p = 0.041). The difference between target and final height did not differ between groups (p = 0.507).ConclusionPP is common in PWS but does not compromise final height in comparison to the NP group. Obesity and insulin resistance were not associated with PP in children with PWS, contrary to what has been seen in obese children without PWS.

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Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation

Madeo,

Zagaroli,

Vandelli

et al. 2024

Front. Endocrinol.

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Prader-Willi syndrome (PWS) is a complex genetic disorder caused by three different types of molecular genetic abnormalities. The most common defect is a deletion on the paternal 15q11-q13 chromosome, which is seen in about 60% of individuals. The next most common abnormality is maternal disomy 15, found in around 35% of cases, and a defect in the imprinting center that controls the activity of certain genes on chromosome 15, seen in 1-3% of cases. Individuals with PWS typically experience issues with the hypothalamic-pituitary axis, leading to excessive hunger (hyperphagia), severe obesity, various endocrine disorders, and intellectual disability. Differences in physical and behavioral characteristics between patients with PWS due to deletion versus those with maternal disomy are discussed in literature. Patients with maternal disomy tend to have more frequent neurodevelopmental problems, such as autistic traits and behavioral issues, and generally have higher IQ levels compared to those with deletion of the critical PWS region. This has led us to review the pertinent literature to investigate the possibility of establishing connections between the genetic abnormalities and the endocrine disorders experienced by PWS patients, in order to develop more targeted diagnostic and treatment protocols. In this review, we will review the current state of clinical studies focusing on endocrine disorders in individuals with PWS patients, with a specific focus on the various genetic causes. We will look at topics such as neonatal anthropometry, thyroid issues, adrenal problems, hypogonadism, bone metabolism abnormalities, metabolic syndrome resulting from severe obesity caused by hyperphagia, deficiencies in the GH/IGF-1 axis, and the corresponding responses to treatment.

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Central precocious puberty in Prader-Willi syndrome: a narrative review

Cited by 3 publications

References 70 publications

Genotype–phenotype characteristics of 57 patients with Prader–Willi syndrome: a single-center experience from Turkey

Genotype–phenotype characteristics of 57 patients with Prader–Willi syndrome: a single-center experience from Turkey

Premature pubarche in Prader‐Willi syndrome: Risk factors and consequences

Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation

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