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 cases and to enhance our knowledge regarding the diagnosis and prompt treatment of this particular PWS patients.
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http://dx.doi.org/10.3389/fendo.2023.1150323 | DOI Listing |
Cureus
December 2024
Pediatric Surgery, Joe DiMaggio Children's Hospital, Hollywood, USA.
Hepatoblastoma is a rare pediatric cancer. Hepatoblastoma typically presents asymptomatically with an enlarging abdominal mass but can be associated with paraneoplastic secretion of beta-gonadotropin leading it to present like peripheral precocious puberty. This case highlights a rare initial presentation of hepatoblastoma as precocious puberty in a two-year-old patient who presented with persistent abdominal and genital pain.
View Article and Find Full Text PDFHeliyon
December 2024
Pharmacology, Toxicology and Clinical Pharmacology, Department of Morphofunctional Sciences, "Iuliu Haţieganu" University of Medicine and Pharmacy, Victor Babeș, No 8, 400012, Cluj-Napoca, Romania.
This study aimed to assess the influence of different types of blue light sources on male and female rats' puberty onset, the morphologic-induced alterations in reproductive organs tissues, the impact on inflammation and oxidative stress markers, anxiety levels, and mathematical modeling for tissue data interpretation. Four groups of sixteen rats each (8 females and 8 males/group) were investigated: three groups were exposed to blue light from mobile phones (MP), computer screens (PC), or LED lamps (LED) versus the control group (CTRL). The rats in the CTRL group had no exposure while the other groups were exposed for 30 days to the blue light of MP, PC, and LED for 16 h per day.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
January 2025
Baoding Hospital, Beijing Children's Hospital Affiliated with Capital Medical University, Baoding, China.
Objective: The objective of this study is to investigate the clinical presentation and underlying genetic etiology of a Chinese child diagnosed with idiopathic central precocious puberty (ICPP).
Methods: Clinical data from a pediatric patient with ICPP, including medical history, physical examination findings, laboratory results, and imaging studies, were collected and analyzed. Whole exome sequencing (WES) was performed to identify potential pathogenic genetic variants underlying the patient's ICPP.
BMJ Case Rep
January 2025
Endocrinology, Government Medical College Thiruvananthapuram, Thiruvananthapuram, Kerala, India.
We describe the case of a girl in her middle childhood who presented with signs of heterosexual precocious puberty in the form of axillary and pubic hair growth, acne and clitoromegaly. Investigations showed elevated androgens and autonomous cortisol excess, suggesting an adrenal source. CT imaging confirmed a left adrenal mass and multiple colonic polyps.
View Article and Find Full Text PDFRev Int Androl
December 2024
Department of Pediatrics, The Third Affiliated Hospital of Wenzhou Medical University, 325200 Wenzhou, Zhejiang, China.
Background: This study aims to explore the diagnostic significance of basal sex hormone levels and pelvic B-mode ultrasound in the context of central precocious puberty (CPP) in female children.
Methods: A cohort study was conducted at the Third Affiliated Hospital of Wenzhou Medical University from January 2014 to January 2024. The study enrolled female children exhibiting early breast development before the age of 8 and subjected them to gonadotropin-releasing hormone (GnRH) stimulation tests.
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