English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Plus monthly

Global: Zendy Tools annual

Global: Zendy Tools monthly

Global: Zendy Free Plan

Dyskeratosis congenita is a very rare multisystemic disorder and it can be accompanied by different endocrinological pathologies. We would like to draw attention to this rare disease by reporting a case diagnosed as dyskeratosis congenita. More specifically, a 30-year-old male patient was referred with the findings of micropenis and atrophic testicles. His parents had cousin marriage. His elder brother had similar symptoms. There were hypopigmented skin lesions over his entire body. The skin was dry and the nails were dystrophic (Figure 1A). His axillary hair and pubic hair were normal but his facial hair was sparse. He had alopecia in the outer third of his eyebrows (Omnibus sign) and a saddle nose (Figure 1B, C). Micropenis was present and the testicles were found to be hypoplastic (left testicle: 11x5mm, right testicle: 10x5mm). Laboratory findings: WBC: 3140/mm3, neutrophil: 1740/mm3, Hb: 12.5gr/dL, plt: 187000/ mm3, free testosterone: 1.4pg/mL (8.69-54.69), total testosterone: 0.70ng/mL (1.75-7.81), FSH: 77.28mIU (1.7-19.2), LH: 15.38mIU (1.24-8.62), free T3: 3.35pg/ ml (2.3-4.2), free T4: 0.98ng/dl (0.74-1.52), TSH: onadism was suspected. Hyperkeratosis keratoderma

A case of dyskeratosis congenita associated with hypothyroidism and hypogonadism