Literature DB >> 3239567

Do some patients with fragile X syndrome have precocious puberty?

M G Butler1, J L Najjar.   

Abstract

We report on an 8 1/2-year-old white girl with fra (X) syndrome; she had mental deficiency, hyperactivity, speech disturbances, slightly prominent ears, mild joint laxity and 20% fra (X) expression. Additional findings include idiopathic precocious puberty and a right ovarian cyst. Ovarian cysts have been reported previously in heterozygous females, but to our knowledge idiopathic precocious puberty is a new finding in this syndrome. Whether precocious puberty is a coincidental finding in this patient or a previously unreported manifestation of the fra (X) syndrome is not clear.

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Year:  1988        PMID: 3239567      PMCID: PMC5459608          DOI: 10.1002/ajmg.1320310408

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  6 in total

1.  Inherited congenital normofunctional testicular hyperplasia and mental deficiency.

Authors:  J M Cantú; H E Scaglia; M Medina; M González-Diddi; T Morato; M E Moreno; G Pérez-Palacios
Journal:  Hum Genet       Date:  1976-07-07       Impact factor: 4.132

2.  Ovarian size in the fragile X mental retardation syndrome.

Authors:  R M Goodman; S Strauss; E Friedman; R Chaki
Journal:  Am J Med Genet       Date:  1987-01

3.  X-linked mental deficiency megalotestes syndrome.

Authors:  R H Ruvalcaba; S A Myhre; E C Roosen-Runge; J B Beckwith
Journal:  JAMA       Date:  1977-10-10       Impact factor: 56.272

Review 4.  Fragile X syndrome.

Authors:  R J Hagerman
Journal:  Curr Probl Pediatr       Date:  1987-11

5.  Adult fragile X syndrome. Clinico-neuropathologic findings.

Authors:  R D Rudelli; W T Brown; K Wisniewski; E C Jenkins; M Laure-Kamionowska; F Connell; H M Wisniewski
Journal:  Acta Neuropathol       Date:  1985       Impact factor: 17.088

6.  Cognitive profiles and the spectrum of clinical manifestations in heterozygous fra (X) females.

Authors:  M B Kemper; R J Hagerman; R S Ahmad; R Mariner
Journal:  Am J Med Genet       Date:  1986 Jan-Feb
  6 in total
  4 in total

1.  High proportion of twins in carriers of fragile X syndrome.

Authors:  E F Tizzano; M Baiget
Journal:  J Med Genet       Date:  1992-08       Impact factor: 6.318

Review 2.  Fragile X syndrome. Molecular and clinical insights and treatment issues.

Authors:  R J Hagerman
Journal:  West J Med       Date:  1997-02

3.  Genotype-phenotype relationships in fragile X syndrome: a family study.

Authors:  D Z Loesch; R Huggins; D A Hay; A K Gedeon; J C Mulley; G R Sutherland
Journal:  Am J Hum Genet       Date:  1993-11       Impact factor: 11.025

4.  Common Clinical Characteristics and Rare Medical Problems of Fragile X Syndrome in Thai Patients and Review of the Literature.

Authors:  Chariyawan Charalsawadi; Juthamas Wirojanan; Somchit Jaruratanasirikul; Nichara Ruangdaraganon; Alan Geater; Pornprot Limprasert
Journal:  Int J Pediatr       Date:  2017-06-29
  4 in total

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