Turner's Syndrome

Sybert, Virginia P.; McCauley, Elizabeth

doi:10.1056/nejmra030360

Cited by 809 publications

(608 citation statements)

References 97 publications

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“…2 The prevalence of classical 21-OHD has been reported to be 1:10 000 Turner's syndrome (TS) has an estimated point prevalence of 1 in 2500 to 1 in 3000 liveborn phenotypic females, and is characterised by short stature, primary gonadal failure, and a wide spectrum of clinical features. 3 There is also a wide range of karyotypes, in which half of them have the classical monosomy X (45,X) and others have various mosaicism for 45,X. Virilisation occurring in patients with TS should prompt a search for the Ychromosome-bearing cell line, as they are at risk of developing malignant gonadal tumours.…”

Section: Discussionmentioning

confidence: 99%

“…The final body heights of patients with untreated mosaic TS and Y chromosome material are usually higher. 3 It is difficult to diagnose co-existing CAH, particularly the non-classical type, in patients with TS, as typical signs such as short stature, menstrual irregularities, primary infertility, and hirsutism may be present in both diseases. Therefore, it is important to measure 17-OHP levels in patients with TS, especially in the presence of moderate-to-severe hirsutism or virilisation.…”

Section: Discussionmentioning

confidence: 99%

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Late presentation of simple virilising 21-hydroxylase deficiency in a Chinese woman with Turner's syndrome

Lee¹,

Chan²,

Fok³

et al. 2013

Hong Kong Med J

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A 66-year-old Vietnam-born Chinese man was admitted to our department because of progressive abdominal swelling and bilateral ankle oedema for 1 year. On physical examination, he was noted to have a short stature with body height of 1.37 m. He had a normal complexion and no other dysmorphic features. His blood pressure was 99/55 mm Hg but with no postural drop. Abdominal examination revealed a distended abdomen without organomegaly or shifting dullness. Examination of his external genitalia revealed a micropenis with perineoscrotal hypospadias (Prader stage IV); no testes could be detected in/along both the scrotum and inguinal canals. However, he had male pattern of escutcheon, a beard, and no gynaecomastia. On further questioning, he reluctantly disclosed a history of urinary leakage since childhood and arrest of growth after puberty at the age of 10 years. Computed tomography of the abdomen revealed a 13.6 x 26.5 x 23.7 cm non-enhancing septated cystic mass arising from the retrovesical region.Initial investigations revealed normal serum electrolytes and acid-base status. His renal function was impaired (serum creatinine of 172; reference range [RR], 62-126 μmol/L), and he had hypoalbuminaemia (serum albumin of 24; RR, 32-46 g/L). Baseline serum sex hormone profiles were as follows: testosterone at 9.2 (RR for male, 9.0-34.7) nmol/L, oestradiol at 176 (RR for male, 26-156) pmol/L, progesterone at 22.8 (RR for male, 0.7-4.3) nmol/L, luteinising hormone at 1.9 (RR, 1.7-8.6) IU/L, follicle-stimulating hormone at 3.0 (RR, 1.5-12.4) IU/L, androstenedione at 31.5 (RR, 0.8-3.1) nmol/L, and dehydroepiandrosterone sulfate at 11.6 (RR, 2.2-15.2) nmol/L. Tumour markers including beta-human chorionic gonadotropin, alpha-fetoprotein, carcinoembryonic antigen, and CA-125 were normal. A mosaic Turner karyotype with 10% monosomy X, 4% trisomy X, and 86% normal female karyotype was detected. The short synacthen test with 250 μg tetracosactrin was performed to unravel the possibility of congenital adrenal hyperplasia (CAH) with the following results: baseline adrenocorticotropic hormone (ACTH) at 50.2 (RR, <10.1) pmol/L; baseline and 60-minute post-stimulation serum cortisol at 224 and at 260 nmol/L, respectively (reference level, >550 nmol/L post-stimulation); and baseline and 60-minute post-stimulation 17-hydroxyprogesterone (17-OHP) at 70 and 554 nmol/L, respectively (reference level of classical CAH, >300 nmol/L). Urinary steroid profiling (USP) by gas chromatography-mass spectrometry (GC-MS) showed grossly elevated metabolites of 17-OHP (Fig 1), including pregnanetriol, 17-hydroxypregnenolone and 11-oxo-pregnanetriol, compatible with 21-hydroxylase deficiency (21-OHD). Mutational analysis of the CYP21A2 gene by multiplex ligation-dependent probe amplification and by polymerase chain reaction (PCR) followed by direct DNA sequencing showed deletion/ conversion of the promoter to exon 4 in one allele and a hemizygous p.Ile172Asn mutation in the other allele. Using PCR no SRY gene could be amplified in the peripheral leukocyt...

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Late presentation of simple virilising 21-hydroxylase deficiency in a Chinese woman with Turner's syndrome

Lee¹,

Chan²,

Fok³

et al. 2013

Hong Kong Med J

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“…- en forma espontánea, y que el desorden afecta solamente 1 de cada 1800 a 5000 nacidos vivos en diferentes poblaciones (1,3). La incidencia estimada del ST en la población blanca es de 25-55 casos por cada 100.000 nacidos vivos femeninos, y tanto ésta como la prevalencia aumentan al realizar estudios cromosómicos prenatales.…”

Section: Caso Clínicounclassified

“…Se puede sospechar el diagnóstico in utero a través de la ecografía prenatal cuando se encuentra edema, hídrops fetal, higroma quístico, cardiopatías complejas, restricción de crecimiento intrauterino. En la infancia o adolescencia los hallazgos sugestivos son: talla baja, cuello alado, amenorrea primaria y signos de hipogonadismo (2)(3)(4).…”

Section: Introductionunclassified

Síndrome De Turner Con Mosaicismo 45x/46xy: Reporte De Caso

Saldarriaga

Sánchez

Lourido

2011

Rev. chil. obstet. ginecol.

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RESUMENEl síndrome de Turner tiene una prevalencia de 1 en 1800 a 5000 recién nacidos vivos femeninos y se caracteriza por la ausencia total o parcial del segundo cromosoma X. Actualmente se reconoce gran variedad en la presentación citogenética, siendo la más común la monosomia del X (45,X) y entre las menos frecuentes los mosaicismos que incluyen fragmentos o la totalidad del cromosoma Y. La presencia de este cromosoma confiere características fenotípicas de androgenización y obliga a la realización de estudios de extensión en las pacientes. Se reporta un caso de síndrome de Turner con mosaicismo 45,X/46,XY, se revisa la literatura y se propone un protocolo de estudio complementario y manejo de las pacientes con este síndrome.PALABRAS CLAVE: Síndrome de Turner, variación citogenética, fenotipo, mosaicismo SUMMARY Turner syndrome has an estimated prevalence of 1 in 1800 to 5000 female births and is characterized by total or partial absence of the second chromosome X. It's now recognized that there is variation in the cytogenetic presentation of the syndrome, being the most common monosomy X (45, X) and among the least frequent it's found mosaicism including fragments or the entire Y chromosome. The presence of Y chromosome confers phenotypic characteristics of androgenization and requires extension studies in patients. We report a case of Turner syndrome with mosaic 45,X/46,XY karyotype found by G-banding and aditionally, we propose a protocol for further studies and management of patients with this syndrome.Key words: Turner's syndrome, cytogenetic variation, phenotype, mosaicism INTRODUCCIÓNEl síndrome de Turner (ST) es una condición genética caracterizada por la ausencia total o parcial del segundo cromosoma X. Su prevalencia oscila entre 1 en 1800 a 5000 recién nacidos vivos femeninos, atribuyéndose las diferencias entre prevalencias estimadas, a la población estudiada y el momento del análisis cromosómico, sin embargo, se estima que representa hasta el 3% de todas las concepciones (1).La forma mas frecuente de presentación citogenética es 45X, sin embargo, alrededor del 50% de los pacientes presentan una formula cromosómica diferente. La variedad 45,X/46,XY es de las de menor frecuencia y esta reportada en cerca del 5% de

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“…The 45,X karyotype (monosomy X) is often seen in Turner syndrome, the patients of which are female with short stature, gonadal dysfunction and redundant nuchal skin [1]. However, in rare cases, monosomy X patients are male, usually due to an unbalanced Y-autosome translocation resulting in retention of the p arm of the Y chromosome harboring the sex determination gene SRY.…”

Section: Introductionmentioning

confidence: 99%

An infertile 45,X male with a SRY-bearing chromosome 13: a clinical case report and literature review

Peng

Zhang

et al. 2014

J Assist Reprod Genet

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Purpose Patients with a karyotype of 45,X (monosomy X) normally display a female phenotype. However, in some rare cases, monosomy X is associated with maleness. Here we describe a case of a male with a 45,X karyotype and primary infertility, which prompted molecular investigation of the sexdetermination gene SRY. Methods Karyotyping was performed by GTG-banded chromosome analysis. The presence and location of SRY was investigated using PCR and FISH, respectively. Results PCR confirmed the presence of the SRY gene while FISH analysis demonstrated its location on the p arm of chromosome 13. These findings demonstrate that autosomal retention of SRY can be sub-microscopic and emphasize the importance of PCR and FISH in the genetic workup of the monosomic X male.

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Turner's Syndrome

Cited by 809 publications

References 97 publications

Late presentation of simple virilising 21-hydroxylase deficiency in a Chinese woman with Turner's syndrome

Late presentation of simple virilising 21-hydroxylase deficiency in a Chinese woman with Turner's syndrome

Síndrome De Turner Con Mosaicismo 45x/46xy: Reporte De Caso

An infertile 45,X male with a SRY-bearing chromosome 13: a clinical case report and literature review

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