A Syndrome of Infantilism, Congenital Webbed Neck, and Cubitus Valgus1

Turner, Henry H.

doi:10.1210/endo-23-5-566

Cited by 1,037 publications

(267 citation statements)

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“…It has been suggested that haploinsufficiency of RPS4 genes may contribute to the Turner phenotype. Turner syndrome females are characterized by short stature, gonadal dysgenesis, and various anatomic abnormalities (24). Deletion analysis of certain XY females with and without the somatic abnormalities characteristic of Turner syndrome has indicated that the Turner phenotype maps to interval 1 or 2 ofthe Y short arm (25,26).…”

Section: Discussionmentioning

confidence: 99%

XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region.

McElreavy

Vilain

Abbas

et al. 1992

Proc. Natl. Acad. Sci. U.S.A.

167

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The human testis-determining factor resides within a 35-kilobase (kb) region of the Y chromosome immediately adjacent to the pseudoautosomal buary. A candidate gene for human sex determination (SRY) was isolated in this region. Here, we describe a study of 25 cases of XY females with pure gonadal dysgenesis for mutations on the Y chromosome short arm, including SRY. Southern blotting revealed a sex-reversed female harboring a deletion extending from -8 kb from the pseudoautosomal boundary of the Y chromosome to at least 33 kb and no more than 60 kb upstream, toward the centromere. The deletion begins no more than 1.8 kb upstream from the first ATG of the SRY open reading frame present in the clone pY53.3. To our knowledge, no mutation has been described previously outside the SRY "HMG box" on the short arm of the Y chromosome, which is assoiated with sex reversal. Since the 5' extent of the SRY tnswriptional unit has not been defined, the deletion may remove up m exons of SRY and/or transcriptional regulatory motifs, either situation resulting in lack of ticular development. It cannot be formally excluded that the mutation removes a second locus, independent of SRY, that is critical for sex deternmnation. Denaturant gradient gel electrophoresis analysis of the SRY open reading frame in the remaining 24 cases revealed de novo single base-pair transitions in the SRY conserved domain in 4 cases.

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Section: Discussionmentioning

confidence: 99%

XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region.

McElreavy

Vilain

Abbas

et al. 1992

Proc. Natl. Acad. Sci. U.S.A.

167

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“…This clinical and genetic heterogeneity characterizing IGD has led to some of the most important contributions in the field of genetic discovery in reproductive endocrinology since the description of Turner and Klinefelter's syndromes (31,32). Over the last 30 years, several research groups around the world have used a combination of clinical investigational strategies and genetic approaches to unravel the growing genetic complexity underlying IGD and link its phenotypic variation to specific genetic and biological causes (Figures 1 and 2).…”

Section: Introductionmentioning

confidence: 99%

Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the “-Omics” Era

2015

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The neuroendocrine regulation of reproduction is an intricate process requiring the exquisite coordination of an assortment of cellular networks, all converging on the GnRH neurons. These neurons have a complex life history, migrating mainly from the olfactory placode into the hypothalamus, where GnRH is secreted and acts as the master regulator of the hypothalamicpituitary-gonadal axis. Much of what we know about the biology of the GnRH neurons has been aided by discoveries made using the human disease model of isolated GnRH deficiency (IGD), a family of rare Mendelian disorders that share a common failure of secretion and/or action of GnRH causing hypogonadotropic hypogonadism. Over the last 30 years, research groups around the world have been investigating the genetic basis of IGD using different strategies based on complex cases that harbor structural abnormalities or single pleiotropic genes, endogamous pedigrees, candidate gene approaches as well as pathway gene analyses. Although such traditional approaches, based on well-validated tools, have been critical to establish the field, new strategies, such as next-generation sequencing, are now providing speed and robustness, but also revealing a surprising number of variants in known IGD genes in both patients and healthy controls. Thus, before the field moves forward with new genetic tools and continues discovery efforts, we must reassess what we know about IGD genetics and prepare to hold our work to a different standard. The purpose of this review is to: 1) look back at the strategies used to discover the "known" genes implicated in the rare forms of IGD; 2) examine the strengths and weaknesses of the methodologies used to validate genetic variation; 3)substantiate the role of known genes in the pathophysiology of the disease; and 4) project forward as we embark upon a widening use of these new and powerful technologies for gene discovery.

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“…Bu sorun, doktorları, olguların erişkin boylarını artırmak için çeşitli büyü-me uyarı tedavilerini denemeye teşvik etmiştir. Bu amaçla ilk olarak Henry Turner pitüiter ekstreleri kullanmış, ancak tedaviye yanıt aşamasında uğradığı hayal kırıklığı sonucunda pratik uygulamada bu tedaviden vazgeçmiştir (3) . Zaman içinde olguların boylarının uzamasına yönelik çok çeşitli tedaviler denenmeye devam edilmiştir.…”

Section: Frequency Of Osteoporosis In Children With Turner Syndrome Aunclassified

Frequency of osteoporosis in children with Turner Syndrome and determining the optimal age of the onset of estrogen replacement theraphy

Kockar¹,

Atik²,

Gürsoy³

et al. 2017

IKSST

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ÖZ Amaç: Turner Sendromunda boy kısalığı ve gonadal yetmezliğe bağlı hipogonadizm en sık karşılaşılan durumlardır. Ovaryan yetmezlik nedeni ile östrojen takviye tedavisi alması gereken bu olgularda, östrojen için uygun dozun belirlenmesi ve östrojen tak Results:The corrected spine z-score was inversely correlated with the age of onset of estrogen therapy (p: 0,042, r: -0,550 15.61±1.10, and 13.26±1.79cm, among patients >148, and < 148 cm -tall, respectively (p=0,05). Conclusion:We determined that the delay in the estrogen replacement therapy does not lead to a dramatic decrease in bone mineral density as anticipated.

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A Syndrome of Infantilism, Congenital Webbed Neck, and Cubitus Valgus1

Cited by 1,037 publications

References 0 publications

XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region.

XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region.

Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the “-Omics” Era

Frequency of osteoporosis in children with Turner Syndrome and determining the optimal age of the onset of estrogen replacement theraphy

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