Unilateral macroorchidism in fragile X syndrome

Limprasert, Pornprot; Jaruratanasirikul, Somchit; Vasiknanonte, Punnee

doi:10.1002/1096-8628(20001218)95:5<516::aid-ajmg20>3.0.co;2-#

Cited by 7 publications

(2 citation statements)

References 7 publications

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“…Approximately 48% and 80% of the patients had an elongated face and prominent ears, respectively. Macroorchidism was observed in 53% of the patients (one of these patients who had unilateral macroorchidism that was apparent when he entered puberty was reported elsewhere [40]). It is interesting to note that 44 prepubertal boys, including affected relatives, were younger than 8 years old, of whom 52% and 9% had obvious and borderline macroorchidism, respectively.…”

Section: Resultsmentioning

confidence: 99%

Common Clinical Characteristics and Rare Medical Problems of Fragile X Syndrome in Thai Patients and Review of the Literature

Charalsawadi

Wirojanan

Jaruratanasirikul

et al. 2017

International Journal of Pediatrics

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Background. Clinical characteristics of fragile X syndrome (FXS) have been well documented in Caucasians, whereas in Asians they have rarely been described. Those that have been conducted used small cohorts that utilized DNA for diagnosis and larger cohorts that utilized cytogenetics for diagnosis. This study is to describe clinical characteristics of FXS in a large cohort of Thai patients diagnosed by standard molecular methods. Methods. Seventy-seven index cases and 46 affected relatives diagnosed with FXS were recruited into the study. To determine frequencies of common characteristics of FXS in prepubertal boys, we reviewed 56 unrelated cases aged between 18 and 146 months. To list rare medical problems, we reviewed 75 cases aged between 8 months to 71 years old, including 53 index cases and 22 affected relatives. In addition, we selected 16 clinical studies from various ethnicities for comparison with our findings. Results. In prepubertal boys with FXS, attention deficit and/or hyperactivity, prominent ears, macroorchidism, and elongated face were observed in 96%, 80%, 53%, and 48% of patients, respectively, whereas recognizable X-linked inheritance presented in 11% of patients. IQ scores ranged between 30 and 64 (mean ± SD = 43 ± 9, n = 25). We observed clinical findings that rarely or have never been reported, for example, medulloblastoma and tetralogy of Fallot. Conclusion. Attention deficit and/or hyperactivity and prominent ear are the most common behavioral and physical features in prepubertal boys with FXS, respectively. There are differences in frequencies of clinical characteristics observed between ethnicities; however, it is difficult to draw a solid conclusion due to different recruitment criteria and sample sizes within each study.

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Section: Resultsmentioning

confidence: 99%

Common Clinical Characteristics and Rare Medical Problems of Fragile X Syndrome in Thai Patients and Review of the Literature

Charalsawadi

Wirojanan

Jaruratanasirikul

et al. 2017

International Journal of Pediatrics

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“…In the same study, they also found 33 children cohort of 33 children diagnosed with developmental delay. Among 237 Thai boys with a developmental delay of unknown cause in Southern Asia, 16 (6.8%) were found to have a full FMR1 mutation, and four were reported to have a premutation [ 41 ]. The prevalence of FXS in Indonesia ranged from 0.9% to 1.9% among the ID population and was higher (6.15%) among the ASD population [ 42 ].…”

Section: Epidemiologymentioning

confidence: 99%

Phenotypic variability to medication management: an update on fragile X syndrome

Elhawary,

AlJahdali,

Abumansour

et al. 2023

Hum Genomics

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This review discusses the discovery, epidemiology, pathophysiology, genetic etiology, molecular diagnosis, and medication-based management of fragile X syndrome (FXS). It also highlights the syndrome’s variable expressivity and common comorbid and overlapping conditions. FXS is an X-linked dominant disorder associated with a wide spectrum of clinical features, including but not limited to intellectual disability, autism spectrum disorder, language deficits, macroorchidism, seizures, and anxiety. Its prevalence in the general population is approximately 1 in 5000–7000 men and 1 in 4000–6000 women worldwide. FXS is associated with the fragile X messenger ribonucleoprotein 1 (FMR1) gene located at locus Xq27.3 and encodes the fragile X messenger ribonucleoprotein (FMRP). Most individuals with FXS have an FMR1 allele with > 200 CGG repeats (full mutation) and hypermethylation of the CpG island proximal to the repeats, which silences the gene’s promoter. Some individuals have mosaicism in the size of the CGG repeats or in hypermethylation of the CpG island, both produce some FMRP and give rise to milder cognitive and behavioral deficits than in non-mosaic individuals with FXS. As in several monogenic disorders, modifier genes influence the penetrance of FMR1 mutations and FXS’s variable expressivity by regulating the pathophysiological mechanisms related to the syndrome’s behavioral features. Although there is no cure for FXS, prenatal molecular diagnostic testing is recommended to facilitate early diagnosis. Pharmacologic agents can reduce some behavioral features of FXS, and researchers are investigating whether gene editing can be used to demethylate the FMR1 promoter region to improve patient outcomes. Moreover, clustered regularly interspaced palindromic repeats (CRISPR)/Cas9 and developed nuclease defective Cas9 (dCas9) strategies have promised options of genome editing in gain-of-function mutations to rewrite new genetic information into a specified DNA site, are also being studied.

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A converging‐methods approach to fragile X syndrome

Churchill

Grossman

Irwin

et al. 2002

Developmental Psychobiology

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Converging approaches across domains of brain anatomy, cell biology, and behavior indicate that Fragile X syndrome, arising from impaired expression of a single gene and protein, appears to involve an aberration of normal developmental processes. Synapse overproduction and selective elimination, or pruning, characterize normal brain development. In autopsy tissue from Fragile X patients and in a knockout mouse model of the disease, synapse overproduction appears to occur unaccompanied by synapse pruning and maturation, leaving an excess of immature spine synapses in place. The absence of the Fragile X protein seems to impair the synthesis of important proteins at synapses. The developmental outcome in Fragile X is a nervous system that is relatively disorganized, resulting in disrupted perceptual, and cognitive social, behavior.

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Unilateral macroorchidism in fragile X syndrome

Cited by 7 publications

References 7 publications

Common Clinical Characteristics and Rare Medical Problems of Fragile X Syndrome in Thai Patients and Review of the Literature

Common Clinical Characteristics and Rare Medical Problems of Fragile X Syndrome in Thai Patients and Review of the Literature

Phenotypic variability to medication management: an update on fragile X syndrome

A converging‐methods approach to fragile X syndrome

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