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Massa, C. Heinrichs, S. Verlinde, M.

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He is a clinical endocrinologist as well as a translational researcher. His research is centered on discovering and understanding the genetic mechanisms involved in monogenic endocrine diseases, in particular those associated with growth and development disorders. Height is a classic example of human trait that exhibits a normal Gaussian distribution within each sex, age and ancestrality.

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This case report describes a 47,XXX girl who presented very early, at the age of 14 months, with signs of sexual precocity breast and pubic hair development, menarche and was finally diagnosed with GnRH dependent precocious puberty with no evidence of underlying central nervous system pathology. Though previous studies have shown a link between karyotype 47,XXX and precocious puberty, this is the youngest patient reported so far. Treatment with GnRH analog was commenced and proved to be effective, indicating a successful suppression of the hypothalamic-pituitary-ovarian axis.

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The Spanish Association of Pediatrics has as one of its main objectives the dissemination of rigorous and updated scientific information on the different areas of pediatrics. Annals of Pediatrics is the Body of Scientific Expression of the Association and is the vehicle through which members communicate. The Impact Factor measures the average number of citations received in a particular year by papers published in the journal during the two receding years. CiteScore measures average citations received per document published.

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Turner syndrome TSalso known 45,Xor 45,X0is a genetic condition in which a female is partly or completely missing an X chromosome. Turner syndrome is not usually inherited from a person's parents. No cure for Turner syndrome is known.

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Case Report. Author Affiliations. Received: January 30, Published: February 07,

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Triple X syndrome is a sex chromosomal aneuploidy condition characterized by tall stature, microcephaly, hypertelorism, congenital abnormalities, and motor and language delays. It is mainly derived from maternal nondisjunctional errors during meiosis. To highlight the clinical features and diagnosis of triple X syndrome, we present a rare phenotype of the syndrome.

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Italian Journal of Pediatrics. DecemberCite as. Referral for an assessment of tall stature is less common than for short stature. Tall stature is defined as a height more than two standard deviations above the mean for age.

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Early diagnosis of Turner syndrome TS is necessary to facilitate appropriate management, including growth promotion. Not all girls with TS have overt short stature, and comparison with parental height Ht is needed for appropriate evaluation. We examined both the prevalence and diagnostic sensitivity of measured parental Ht in a dedicated TS clinic between and

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