Turner syndrome with rapidly progressive puberty: a case report and literature review

Yuan, Xuewen; Zhu, Ziyang

doi:10.1177/0300060519896914

Cited by 3 publications

(2 citation statements)

References 23 publications

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“…It is typically a de novo condition, because most patients are infertile, but in extremely rare cases it can be transmitted from one generation to the next ( 12 ). The phenotype of Turner syndrome arises from X-linked genes that escape inactivation: short stature and Madelung's deformity result from mutations in the SHOX gene ( 13 ), while gonadal dysgenesis involves genes such as USP9X, RPS4X , and DIAPH2 ( 12 , 14 ).…”

Section: Introductionmentioning

confidence: 99%

Case report: A novel pathogenic FRMD7 variant in a Turner syndrome patient with familial idiopathic infantile nystagmus

Hafdaoui,

Ciaccio,

Castellotti

et al. 2023

Front. Neurol.

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Infantile idiopathic nystagmus (IIN) is an oculomotor disorder characterized by involuntary bilateral, periodic ocular oscillations, predominantly on the horizontal axis. X-linked IIN (XLIIN) is the most common form of congenital nystagmus, and the FERM domain-containing gene (FRMD7) is the most common cause of pathogenesis, followed by mutations in GPR143. To date, more than 60 pathogenic FRMD7 variants have been identified, and the physiopathological pathways leading to the disease are not yet completely understood. FRMD7-associated nystagmus usually affects male patients, while it shows incomplete penetrance in female patients, who are mostly asymptomatic but sometimes present with mild ocular oscillations or, occasionally, with clear nystagmus. Here we report the first case of a patient with Turner syndrome and INN in an XLIIN pedigree, in which we identified a novel frameshift mutation (c.1492dupT) in the FRMD7 gene: the absence of one X chromosome in the patient unmasked the presence of the familial genetic nystagmus.

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Section: Introductionmentioning

confidence: 99%

Case report: A novel pathogenic FRMD7 variant in a Turner syndrome patient with familial idiopathic infantile nystagmus

Hafdaoui,

Ciaccio,

Castellotti

et al. 2023

Front. Neurol.

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“…Turner's syndrome is one of the most frequently reported chromosomal abnormalities, affecting 40 in every 100,000 live female births [1,2]. The syndrome results from the total or partial loss of the Xchromosome, being the only monosomy compatible with life [3]. The karyotype is either X-monosomy (45, X) or mosaic-type, 45X, 46XX.…”

Section: Introductionmentioning

confidence: 99%

Liver Abnormalities in Turner’s Syndrome – Effects of Estrogen Replacement Therapy

Fedor

Zöld

Barta

2021

Preprint

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BackgroundTurner’s syndrome is one of the most frequently reported sex chromosomal abnormality, affecting approximately 40 in every 100,000 live female births. Due to insufficient estrogen production, induction of puberty and sexual development requires hormone replacement. The syndrome affects several organ systems with diverse clinical features (cardiovascular, reproductive, hepato-biliary). There is also an increased risk of developing immune-mediated inflammatory diseases (IMID). Hepatobiliary alterations embrace a broad spectrum of possible manifestations, from asymptomatic mild hypertransaminasemia to overt hepatitis and even cirrhosis. Although exogenous estrogen hormones might cause liver dysfunction, in Turner’s syndrome hormone replacement can even alleviate the derangement of laboratory values and might prove beneficial in preventing the progression of hepatic architectural alterations.FindingsWe report two patients, in whom cessation of estrogen replacement therapy lead to worsening of hepatic and cholestatic enzyme values. These changes were later alleviated by recommencing estrogen hormone administration. We aim to summarize the available literature on estrogen hormone replacement therapy in Turner’s syndrome. We also provide a brief overview on the role of estrogen hormones in the pathology associated with the syndrome. ConclusionsOur findings are confirming, that estrogen replacement therapy has beneficial effects on hepatic enzymes and liver related laboratory studies in Turner’s syndrome. Therefore it is recommended for physicians not to withdraw estrogen replacement, even with elevated concentrations of liver and cholestatic enzymes in Turner’s syndrome patients.

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Liver Abnormalities in Turner Syndrome: The Importance of Estrogen Replacement

Fedor

Zöld

Barta

2022

Journal of the Endocrine Society

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Turner’s syndrome is one of the most frequently reported sex chromosomal abnormalities, affecting approximately 40 in every 100,000 live female births. The underlying chromosomal alteration is the complete or partial loss of X-chromosome or mosaicism. Due to primary ovarian insufficiency, the synthesis of estrogen hormones is compromised, and patients require hormone substitution. Apart from the phenotypical presentation (short stature, primary amenorrhea), the effects of ovarian insufficiency can affect diverse organ systems (such as cardiovascular, endocrine, and lymphatic systems). Hepatobiliary pathology can present on a broad spectrum: from mild asymptomatic hypertransaminasemia to marked architectural changes. Estrogen hormone replacement therapy in these patients can improve the perturbations of laboratory values and can attenuate the progression of hepatic structural changes. Moreover, providing sufficient estrogen replacement has numerous benefits for other conditions of the patients as well. Both the all-cause mortality and deaths due to cardiovascular complications are greatly increased in Turner’s syndrome, and hormone replacement might contribute to the decreased incidence of these events. The diagnostics of Turner’s syndrome are out of the scope of our paper, and we briefly discuss the cardiovascular complications, as many the liver involvement partially involves alterations of vascular origin. Though we sought to highlight the importance of proper hormone replacement therapy, we did not attempt to write a comprehensive recommendation for exact treatment protocols. We provided an overview of preferred therapeutic approaches, as the treatment should be tailored according to the individual patient’s needs.

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Turner syndrome with rapidly progressive puberty: a case report and literature review

Cited by 3 publications

References 23 publications

Case report: A novel pathogenic FRMD7 variant in a Turner syndrome patient with familial idiopathic infantile nystagmus

Case report: A novel pathogenic FRMD7 variant in a Turner syndrome patient with familial idiopathic infantile nystagmus

Liver Abnormalities in Turner’s Syndrome – Effects of Estrogen Replacement Therapy

Liver Abnormalities in Turner Syndrome: The Importance of Estrogen Replacement

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