ArticleEuropean journal of pediatrics2008
Central precocious puberty and growth hormone deficiency in a boy with Prader-Willi syndrome.
Article in European journal of pediatrics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 33 citations in OpenAlex.
- Variant pubertal development in Prader-Willi syndrome: early and slow progression of pubarche with normal age at gonadarche.Frontiers in endocrinology · 2025Article
- Prader-Willi syndrome: guidance for children and transition into adulthood.Endocrine connections · 2024Article
- Puberty in girls with Prader-Willi syndrome: cohort evaluation and clinical recommendations in a Latin American tertiary center.Frontiers in endocrinology · 2024Article
- Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation.Frontiers in endocrinology · 2024Review
- Central precocious puberty in Prader-Willi syndrome: a narrative review.Frontiers in endocrinology · 2023Review
- A rare occurrence of non-classic congenital adrenal hyperplasia and type 1 diabetes mellitus in a girl with Prader-Willi Syndrome: Case report and review of the literature.Frontiers in endocrinology · 2023Review
- MKRN3 role in regulating pubertal onset: the state of art of functional studies.Frontiers in endocrinology · 2022Review
- Hypothalamic neuropeptides and neurocircuitries in Prader Willi syndrome.Journal of neuroendocrinology · 2021Review
- Prader-Willi Syndrome and Hypogonadism: A Review Article.International journal of molecular sciences · 2021Review
- Central precocious puberty as a prelude of gonad dysplasia.Pediatric investigation · 2019Review
- Precocious and Early Central Puberty in Children With Pre-existing Medical Conditions: A Single Center Study.Frontiers in pediatrics · 2019Article
- Gonadal function and testicular histology in males with Prader-Willi syndrome.Endocrinology, diabetes & metabolism · 2019Article
- An update on the genetic causes of central precocious puberty.Annals of pediatric endocrinology & metabolism · 2016Review
- Puzzle Pieces: Neural Structure and Function in Prader-Willi Syndrome.Diseases (Basel, Switzerland) · 2015Review
- Endocrine problems in children with Prader-Willi syndrome: special review on associated genetic aspects and early growth hormone treatment.Korean journal of pediatrics · 2012Article
- Prader-willi syndrome: clinical aspects.Journal of obesity · 2012Article
- A boy with Prader-Willi syndrome: unmasking precocious puberty during growth hormone replacement therapy.Archives of endocrinology and metabolismArticle
- CENTRAL PRECOCIOUS PUBERTY IN TWO BOYS WITH PRADER-WILLI SYNDROME ON GROWTH HORMONE TREATMENT.AACE clinical case reportsArticle
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In Prader-Willi syndrome (PWS) hypothalamic dysfunction is the cause of hormonal disturbances, such as growth hormone deficiency (GHD), hypogonadism, and delayed or incomplete puberty. Only a few cases of central precocious puberty (CPP) have been reported. We describe an 8.8-year-old PWS boy, with microdeletion of chromosome 15q, who developed CPP. On admission, height was 131.1 cm (+0.17 SD), BMI 26.2 kg/m(2), pubic hair (Ph) 2, and testis 4.5 ml. We found increased growth velocity (7 cm/year), high testosterone levels, pubertal response to GnRH test, and advanced bone age (10.6 years). An evaluation of growth hormone (GH) secretion revealed a deficiency. Pituitary MRI was normal. LHRH analogue therapy (Leuproreline 3.75 mg/28 days i.m.) was started at 8.9 years and discontinued at 11.3 years, when the patient had bone age of 13 years. During therapy, growth velocity, testosterone, FSH, and LH peak decreased significantly, with no pubertal progression. Growth hormone therapy (0.24 mg/kg/week) was started at 9.5 years and discontinued at 15.3 years because the patient had bone age of 17 years. After interrupting LHRH therapy the patient demonstrated spontaneous pubertal progression with pubertal gonadotropin and testosterone. At 16.3 years, height was 170 cm (-0.48 SDS), BMI 36.3 kg/m(2), Ph 4, testis volume 10 ml and there was a combined hypothalamic and peripheral hypogonadism hormonal pattern (normal LH even with low testosterone and undetectable inhibin B with high FSH). To our knowledge this is the fourth male patient with genetically-confirmed PWS demonstrating CPP and GHD and the first with a long follow-up to young adulthood.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.