Children with 45,X/46,XY Karyotype from Birth to Adult Height

Tosson, Hanan; Rose, Susan R.; Gartner, Lou Ann

doi:10.1159/000281468

Cited by 40 publications

(58 citation statements)

References 37 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: 59%

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: 59%

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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“…But later on in adulthood, these patients usually develop infertility because of azoospermia or oligospermia, and elevated gonadotropins. 4,7,8 Our first patient had azoospermia with elevated gonadotropins, which are clearly signs of primary gonadal failure.…”

Section: Case Reportmentioning

confidence: 87%

“…GH provocative testing gave laboratory evidence of GH deficiency (0.64ng/ml and 1.0ng/ml maximum GH rise after combined betaxolole/clonidine stimulation and LDopa stimulation, normal >10ng/ml). Cytogenetic analysis of peripheral blood revealed a karyotype with mos 45,X [7]/46,XY [43].…”

Section: Case Reportmentioning

confidence: 99%

45,X/46,XY mosaicism: a cause of short stature in males

Efthymiadou¹,

Stefanou²,

Chrysis³

2012

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45,X/46,XY mosaicism is associated with a broad spectrum of phenotypes ranging from apparently normal male development to individuals with incomplete sexual differentiation and clinical signs of Turner syndrome in both males and females. The most common presentation among individuals with a 45,X/46,XY karyotype is sexual ambiguity, accounting for approximately 60% of cases, while the least common category of 45,X/46,XY patients consists of those with bilaterally descended testes, found in 11-12%. We report on two patients with an apparently normal male phenotype and 45,X/46,XY mosaicism who were diagnosed postnatally because of short stature. Both of these boys presented at the age of 15 years with short stature, minor Turner-like stigmata, normal male external genitalia and spontaneous pubertal development. One of them had coarctaction of the aorta with bicuspid aortic valve, an uncommon clinical feature in boys with mosaicism. The same patient underwent a trial of GH replacement therapy with poor response and his sperm analysis revealed azoospermia. Like our patients, most mosaic 45,X/46,XY children with bilateral scrotal testes go unrecognised at birth and throughout childhood unless they have somatic features of Turner syndrome or significant growth retardation. We recommend that boys with otherwise unexplained short stature, being short for their families, should be karyotyped routinely as is recommended in short-stature girls. In addition, boys with 45,X/46,XY mosaicism require a thorough clinical evaluation similar to that performed in girls with Turner syndrome and must be routinely followed up for their potential to respond favorably to GH treatment and for late onset abnormalities, such as infertility and gonadal tumors.

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“…(206), delayed puberty and any indication of physical stigmata. Deletions of the long arm of the Y chromosome, or X/XY mosaicisms in phenotypic females or males, are associated with short stature (207,208,209,210). However, in short males the diagnostic yield of karyotyping is low (3%) (200).…”

Section: Chromosomal Abnormalitiesmentioning

confidence: 99%

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature

Wit

Oostdijk

Losekoot

et al. 2016

European Journal of Endocrinology

154

132

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The fast technological development, particularly single nucleotide polymorphism array, array-comparative genomic hybridization, and whole exome sequencing, has led to the discovery of many novel genetic causes of growth failure. In this review we discuss a selection of these, according to a diagnostic classification centred on the epiphyseal growth plate. We successively discuss disorders in hormone signalling, paracrine factors, matrix molecules, intracellular pathways, and fundamental cellular processes, followed by chromosomal aberrations including copy number variants (CNVs) and imprinting disorders associated with short stature. Many novel causes of GH deficiency (GHD) as part of combined pituitary hormone deficiency have been uncovered. The most frequent genetic causes of isolated GHD are GH1 and GHRHR defects, but several novel causes have recently been found, such as GHSR, RNPC3, and IFT172 mutations. Besides well-defined causes of GH insensitivity (GHR, STAT5B, IGFALS, IGF1 defects), disorders of NFkB signalling, STAT3 and IGF2 have recently been discovered. Heterozygous IGF1R defects are a relatively frequent cause of prenatal and postnatal growth retardation. TRHA mutations cause a syndromic form of short stature with elevated T 3 /T 4 ratio. Disorders of signalling of various paracrine factors (FGFs, BMPs, WNTs, PTHrP/IHH, and CNP/NPR2) or genetic defects affecting cartilage extracellular matrix usually cause disproportionate short stature. Heterozygous NPR2 or SHOX defects may be found in w3% of short children, and also rasopathies (e.g., Noonan syndrome) can be found in children without clear syndromic appearance. Numerous other syndromes associated with short stature are caused by genetic defects in fundamental cellular processes, chromosomal abnormalities, CNVs, and imprinting disorders.

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Children with 45,X/46,XY Karyotype from Birth to Adult Height

Cited by 40 publications

References 37 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

45,X/46,XY mosaicism: a cause of short stature in males

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature

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