Endocrine manifestations of Down syndrome

Whooten, Rachel C.; Schmitt, Jessica; Schwartz, Alison

doi:10.1097/med.0000000000000382

Cited by 67 publications

(55 citation statements)

References 49 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Studies have linked the collapse of hair follicle immune privilege with dysregulation of T helper type 1 (TH1) cells, specifically CD8 + T cells, and subsequent increased expression of IFN‐γ 28 . The AIRE gene, which regulates self‐recognition and T‐cell function, has been implicated in AA immune dysregulation 29 …”

Section: Discussionmentioning

confidence: 99%

Dermatologic conditions in Down syndrome: A single‐center retrospective chart review

Rork

McCormack

Lal

et al. 2020

Pediatric Dermatology

View full text Add to dashboard Cite

Background: Current literature addressing dermatologic conditions associated with Down syndrome is limited, with emphasis on rare skin conditions and lack of consensus on the incidence of more common disorders. Objective: We sought to evaluate dermatologic conditions in patients with Down syndrome diagnosed and managed by dermatologists. Methods: This was a retrospective analysis of 101 pediatric and adult patients with Down syndrome seen by the University of Massachusetts Dermatology Department between 2008 and 2018. Results: Folliculitis was the most common diagnosis overall (30.7%), followed by seborrheic dermatitis (26.7%) and hidradenitis suppurativa (22.8%). Eczematous dermatitis, alopecia areata, and xerosis were the most common diagnoses observed in children aged 0-12 years; hidradenitis suppurativa, folliculitis, and seborrheic dermatitis in adolescents aged 13-17 years; and folliculitis, seborrheic dermatitis, and xerosis in adults 18 years and older. Other notable diagnoses present overall included onychomycosis (9.9%) and psoriasis (8.9%). Malignant cutaneous tumors were present in two patients, specifically basal cell carcinoma and malignant melanoma in situ. Limitations: This was a retrospective, single-institution study. Conclusion: Dermatologic conditions in patients with Down syndrome vary by age but are most often adnexal and eczematous disorders. Trisomy of chromosome 21 and the resulting downstream effects, specifically on the immune system, may account for these findings.

show abstract

Section: Discussionmentioning

confidence: 99%

Dermatologic conditions in Down syndrome: A single‐center retrospective chart review

Rork

McCormack

Lal

et al. 2020

Pediatric Dermatology

View full text Add to dashboard Cite

show abstract

“…It has been demonstrated that pregnant women with a DS fetus suffer from lipid disorders related to disturbed cholesterol metabolism and lipid transport; incorrect distribution of VLDL, LDL, and lipid peroxidation [ 4 ]; and altered concentration of sphingolipids, which leads to improper myelination of fetal neurons [ 24 ]. These patients also show insufficient endothelial function, which is related to the inflammation process, oxidative stress, and dysregulated lipid metabolism, which may result in insufficient cell division [ 25 ].…”

Section: Discussionmentioning

confidence: 99%

The Significance of Apolipoprotein E Measurement in the Screening of Fetal Down Syndrome

Buczyńska

Sidorkiewicz

Ławicki

et al. 2020

JCM

View full text Add to dashboard Cite

Prenatal screening for Down syndrome (DS) is based on both noninvasive and invasive methods. Noninvasive, cell-free fetal DNA genetic tests are expensive, whereas biochemical methods remain imprecise. Amniocentesis is the most frequently used invasive diagnosis procedure, characterized by 99.8% diagnostic efficiency and less than 1% risk of miscarriage. The aim of this study was to evaluate the screening value of apolipoprotein E (ApoE) as a potential noninvasive biomarker for prenatal DS assessment. This study was conducted on a group of female patients who decided to undergo routine amniocentesis between the 15th and 18th week of pregnancy at the Department of Reproduction and Gynecological Endocrinology of the Medical University of Bialystok, Poland. For the purpose of this study, 20 women with DS fetuses were selected as the study group, and 20 healthy pregnant women with euploid fetus karyotypes as the control group. The plasma levels of ApoE were significantly higher in the study group compared to healthy subjects (p < 0.05). The area under the receiver operating characteristic (ROC) curve was 0.978 (p < 0.001), with the cut-off set to 1.37 mg/mL, which was characterized by 80% of sensitivity and 100% of specificity. The high sensitivity and specificity demonstrate the screening utility of maternal ApoE concentration in prenatal fetal DS screening.

show abstract

“…32 • Los pacientes con síndrome de Down presentan mayor riesgo de enfermedad tiroidea autoinmune (TLC y EG), de hipotiroidismo subclínico o hipertirotropinemia y de hipotiroidismo congénito. 16,33 Debido a esto, 10 mU/l deberían ser repetidos antes de iniciar el tratamiento, pues, en el 70 % de los casos, serán normales en la siguiente determinación. 24 Las alteraciones del sueño, el estrés y el calor 13 pueden modificar los valores de TSH.…”

Section: Diagnósticounclassified

Alteraciones tiroideas en la infancia y en la adolescencia. Parte 2: hipotiroidismo Comité Nacional de Endocrinología

2021

Arch Argent Pediat

View full text Add to dashboard Cite

Endocrine manifestations of Down syndrome

Abstract: Recent research confirms and expands on the previously known endocrinopathies in Down syndrome and provides more insight into potential underlying mechanisms.

Cited by 67 publications

References 49 publications

Dermatologic conditions in Down syndrome: A single‐center retrospective chart review

Dermatologic conditions in Down syndrome: A single‐center retrospective chart review

The Significance of Apolipoprotein E Measurement in the Screening of Fetal Down Syndrome

Alteraciones tiroideas en la infancia y en la adolescencia. Parte 2: hipotiroidismo Comité Nacional de Endocrinología

Contact Info

Product

Resources

About