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MKRN3 circulating levels in girls with central precocious puberty caused by MKRN3 gene mutations
PurposeMKNR3 is a paternally expressed gene whose mutations are the main cause of central precocious puberty (CPP). Protein circulating levels can...
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MKRN3 circulating levels in Prader–Willi syndrome: a pilot study
ContextHypogonadism in Prader–Willi syndrome (PWS) is generally attributed to hypothalamic dysfunction or to primary gonadal defect. MKRN3 , a...
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Familial central precocious puberty: two novel MKRN3 mutations
BackgroundPaternally inherited loss-of-function mutations in MKRN3 underlie central precocious puberty (CPP). We describe clinical and genetic...
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Novel variants ensued genomic imprinting in familial central precocious puberty
IntroductionCentral precocious puberty (CPP) is characterized by the early onset of puberty and is associated with the critical processes involved in...
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MKRN3 and KISS1R mutations in precocious and early puberty
BackgroundPubertal timing is known to be influenced by interactions among various genetic, nutritional, environmental and socio-economic factors,...
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Genetische und epigenetische Einflüsse auf den Pubertätsverlauf in Bezug auf Pubertas praecox vera und Pubertas tarda
BackgroundThe onset of puberty is controlled by the complex interaction of genetic, environmental and epigenetic factors. The (re)activation of...
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A new DLK1 defect in a family with idiopathic central precocious puberty: elucidation of the male phenotype
PurposeWe aimed to investigate a cohort of female and male patients with idiopathic central precocious puberty (CPP), negative for Makorin Ring...
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Metabolic control of puberty: 60 years in the footsteps of Kennedy and Mitra’s seminal work
An individual’s nutritional status has a powerful effect on sexual maturation. Puberty onset is delayed in response to chronic energy insufficiency...
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Molecular screening of PROKR2 gene in girls with idiopathic central precocious puberty
BackgroundProkineticin receptor 2 ( PROKR2 ) loss of function mutations have been described as cause of hypogonadotropic hypogonadism. In 2017, a...
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Diagnosis and management of precocious sexual maturation: an updated review
The classic definition of precocious sexual maturation is the development of secondary sexual characteristics before 8 years of age in girls and...
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A 14-year-old male patient with diagnosis of Prader–Willi syndrome in Ethiopia: a case report
BackgroundPrader–Willi syndrome is a complex multisystem disorder due to the absent expression of paternally active genes in the Prader–Willi...
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A comprehensive review of genetic causes of obesity
BackgroundObesity is a multifactorial chronic disease with a high, increasing worldwide prevalence. Genetic causes account for 7% of the cases in...
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Incidental pineal gland cyst in girls with early onset of puberty
BackgroundThe causes of an early onset of puberty are still not clearly defined and may vary from subject to subject. In girls, even if 90% of early...
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Idiopathic central precocious puberty in a Klinefelter patient: highlights on gonadotropin levels and pathophysiology
BackgroundIdiopathic central precocious puberty (ICPP) is supposed to be non-existent in a context of testicular destruction that is typically...
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Genetic subtypes and phenotypic characteristics of 110 patients with Prader-Willi syndrome
BackgroundPrader-Willi syndrome (PWS) is a complex disorder caused by impaired paternally expressed genes on chromosome 15q11-q13. Variable findings...
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Delayed Puberty
Testicular volume ≥4 ml and appearance of breast budding are the first signs of puberty. Delayed puberty is diagnosed in the absence of thelarche by...
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Genomic evidence for the suitability of Göttingen Minipigs with a rare seizure phenotype as a model for human epilepsy
Epilepsy is a complex genetic disorder that affects about 2% of the global population. Although the frequency and severity of epileptic seizures can...
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Blutungsstörungen im Kindes- und Jugendalter
Menstrual cycle irregularities are a frequent problem in adolescent gynecology, but rarely in prepubertal girls. Vaginal bleeding before the age of...
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Circulating MicroRNAs in Relation to Esophageal Adenocarcinoma Diagnosis and Survival
Background and AimsTissue miRNA can discriminate between esophageal adenocarcinoma (EA) and normal epithelium. However, no studies have examined a...
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MKRN3 levels in girls with central precocious puberty and correlation with sexual hormone levels: a pilot study
PurposeRecently, mutations of makorin RING-finger protein 3 (MKRN3) have been described in familial central precocious puberty. Serum levels of this...
