Do you know this syndrome?

Kondo, Rogério Nabor; Martins, Ligia Márcia Mario; Lopes, Vivian Cristina Holanda; Bittar, Rodrigo Antonio; Araújo, Fernanda Mendes

doi:10.1590/abd1806-4841.20131934

Cited by 3 publications

(1 citation statement)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Twelve patients (13.79%) of 18–34 years old ever had sexual activity while the rest 75 (86.21%) did not. Noonan syndrome has similar clinical manifestation with TS [ 13 ] and there are only two cases with Noonan syndrome in this study, so they were assigned into category of TS. Similarly, TRS patients have primary amenorrhea and no uterus with a 46, XY karyotype as patients of AIS [ 14 ], and they were arranged into AIS group for analysis because of small numbers.…”

Section: Resultsmentioning

confidence: 99%

The Investigation of Quality of Life in 87 Chinese Patients with Disorders of Sex Development

Wang

Tian

2015

BioMed Research International

View full text Add to dashboard Cite

Objective. In the process of care for disorders of sex development (DSD), clinical decisions should focus on the long-term quality of life (QOL). We sought to investigate the QOL of patients with DSD in China. Design. Case-control study was carried out. Patients. 90 patients of DSD participated in the study. Finally, 87 patients were analyzed including Turner's syndrome (23), Noonan syndrome (2), androgen insensitivity syndrome (22), testicular regression syndrome (2), congenital adrenal hyperplasia (16), and pure gonadal dysgenesis (22). Measurements. The WHOQOL-BREF questionnaire was chosen for the present investigation. Four domain scores were analyzed independently including physical, psychological, and social relationship and environmental domains. Results. The average age of the DSD group is 22.34 ± 4.97 years, and only 13.79% patients ever had sexual life. The scores of psychological and environmental domains were lower than that of the physical and social relationship domains, but the difference was not significant (P > 0.05). Compared with the Chinese urban population, the QOL scores of DSD patients in China were not significantly lower. Conclusions. With proper treatment, including the follow-up and psychological support, the QOL of DSD patients cannot be significantly reduced. For DSD patients, more attention should be paid to the potential psychological and sexual problems.

show abstract

Section: Resultsmentioning

confidence: 99%

The Investigation of Quality of Life in 87 Chinese Patients with Disorders of Sex Development

Wang

Tian

2015

BioMed Research International

View full text Add to dashboard Cite

show abstract

Keratosis Pilaris and its Subtypes: Associations, New Molecular and Pharmacologic Etiologies, and Therapeutic Options

Wang

Orlow

2018

Am J Clin Dermatol

View full text Add to dashboard Cite

Keratosis pilaris is a common skin disorder comprising less common variants and rare subtypes, including keratosis pilaris rubra, erythromelanosis follicularis faciei et colli, and the spectrum of keratosis pilaris atrophicans. Data, and critical analysis of existing data, are lacking, so the etiologies, pathogeneses, disease associations, and treatments of these clinical entities are poorly understood. The present article aims to fill this knowledge gap by reviewing literature in the PubMed, EMBASE, and CINAHL databases and providing a comprehensive, analytical summary of the clinical characteristics and pathophysiology of keratosis pilaris and its subtypes through the lens of disease associations, genetics, and pharmacologic etiologies. Histopathologic, genomic, and epidemiologic evidence points to keratosis pilaris as a primary disorder of the pilosebaceous unit as a result of inherited mutations or acquired disruptions in various biomolecular pathways. Recent data highlight aberrant Ras signaling as an important contributor to the pathophysiology of keratosis pilaris and its subtypes. We also evaluate data on treatments for keratosis pilaris and its subtypes, including topical, systemic, and energy-based therapies. The effectiveness of various types of lasers in treating keratosis pilaris and its subtypes deserves wider recognition.

show abstract