Talla baja en varones con fenotipo normal y mosaicismo 45,X/46,XY

Orejas, E. Lara; Gaztelu, L. Golmayo; Estévez, Manuela Núñez; Cos-Gayón, M.A. San Román; Alonso‐Blanco, Cristina; Castellanos, Raquel Barrio

doi:10.1157/13116229

Cited by 3 publications

(1 citation statement)

References 10 publications

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“…24 Individuals with 45,X/46,XY mosaicism presenting male external genitalia may also exhibit short stature. [23][24][25][26] This feature was observed in two patients of our sample, and both of them also presented hypospadias. The slower growth in these patients appears to be related to deficiencies of both their In postnatal studies, the most common clinical presentation of 45,X/46,XY mosaicism is ambiguity of the external genitalia.…”

Section: X/46xy Mosaicism Can Be Detected In Individuals Withmentioning

confidence: 53%

45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study

Rosa

D'Ecclesiis²,

Dibbi

et al. 2014

Sao Paulo Med. J.

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CONTEXT AND OBJECTIVE: 45,X/46,XY mosaicism, or mixed gonadal dysgenesis, is considered to be a rare disorder of sex development. The aim of our study was to investigate the clinical and cytogenetic characteristics of patients with this mosaicism. DESIGN AND SETTING: A retrospective study in a referral hospital in southern Brazil. METHODS: Our sample consisted of patients diagnosed at the clinical genetics service of a referral hospital in southern Brazil, from 1975 to 2012. Clinical and cytogenetic data were collected from the medical records. RESULTS: Fourteen patients were included in the sample, with ages at the first evaluation ranging from 2 days to 38 years. Nine of them had female sex of rearing and five, male. Regarding the external genitalia, most were ambiguous (n = 10). One patient presented male phenotype and was treated for a history of azoospermia, while three patients presented female phenotype, of whom two had findings of Turner syndrome and one presented secondary amenorrhea alone.

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Section: X/46xy Mosaicism Can Be Detected In Individuals Withmentioning

confidence: 53%

45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study

Rosa

D'Ecclesiis²,

Dibbi

et al. 2014

Sao Paulo Med. J.

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Mixed Sex Chromosome and Ovo-Testicular DSD

Hewitt

Warne

2011

Disorders of Sex Development

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Growth in Boys with 45,X/46,XY Mosaicism: Effect of Growth Hormone Treatment on Statural Growth

Bertelloni¹,

Baroncelli²,

Massart³

et al. 2015

Sex Dev

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45,X/46,XY mosaicism is a rare sex chromosome disorder of sex development. Short stature is a main feature of boys with this condition. Different causes likely contribute to growth impairment. Growth hormone (GH) has been administered to treat short stature in boys with 45,X/46,XY mosaicism, but conflicting data are available. Here, spontaneous growth patterns as well as short- and long-term follow-up studies during GH therapy in these patients are reviewed. Short- and mid-term data showed an improvement of the growth pattern in GH-treated boys, mainly when hormonal therapy was started early, while long-term follow-up demonstrated similar adult heights in GH-treated and untreated patients. Individual biological factors (e.g. different chromosome constitution, different mosaicism among various tissues, impaired pubertal growth spurt), non-homogeneous GH doses and different ages at start of therapy may contribute to the variable results. Thus, early GH therapy at pharmacological doses may improve the growth pattern of short boys with 45,X/46,XY mosaicism, but data on adult height are disappointing. Evaluation of larger patient samples treated by homogeneous doses and long-term follow-up studies assessing adult height and safety are needed to reach definitive conclusions on GH therapy in boys with 45,X/46,XY mosaicism.

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Talla baja en varones con fenotipo normal y mosaicismo 45,X/46,XY

Cited by 3 publications

References 10 publications

45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study

45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study

Mixed Sex Chromosome and Ovo-Testicular DSD

Growth in Boys with 45,X/46,XY Mosaicism: Effect of Growth Hormone Treatment on Statural Growth

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