A Case of Dyskeratosis Congenita Associated with Hypothyroidism and Hypogonadism

Dyskeratosis congenital (DC) is a rare multisystemic disease characterized by skin atrophy, pigmentation, nail dystrophy, leukoplakia in mucous membrane, bone marrow failure, and tendency to malignancy. We present a rare case of DC associated with hypothyroidism and hypogonadism.

Case:

A 30-year-old male patient was referred to us with the findings of micropenis and atrophic testicles. His parents had a cousin marriage. His physical examination results were as follows: blood pressure 130/80 mmHg, BMI 28 kg/m2. There were hypopigmented skin lesions on the whole body. The skin was dry and the nails were dystrophic. Axillary hair and pubic hair were normal, but facial hair was scarce. He had alopecia in 1/3 of outer eyebrow (Omnibus sign) and saddle nose. Micropenis was present and testicles were found to be hypoplasic. During the auscultation, roncus was common and expiration was long. Laboratory findings were as follows: WBC 3140/mm3, neutrophils 1740/mm3, Hb 12.5 gr/dL, plt 187000/mm3, free testosterone 1.4 pg/mL, total testosterone 0.70 ng/mL, follicle-stimulating hormone (FSH) 77.28 mIU/mL, luteinizing hormone (LH) 15.38 mIU/mL, estradiol <20 pg/mL, prolactin 6.77 ng/mL, free triiodothyronine 3.35 pg/mL, free thyroxine 0.98 ng/dL, thyroid-stimulating hormone 10.88 μU/mL, anti-thyroglobulin 203 IU/mL, adrenocorticotropic hormone 24.1 pg/mL, and cortisol 13.34 µg/dL. Hypergonadotropic hypogonadism was suspected as testosterone was low and FSH and LH were high. Hyperkeratosis keratoderma was found in the skin biopsy. In the biopsy of cervical lymph node from the right side, we found disseminated histiocytic proliferation changing the normal appearance of the lymph node and granulomas that were characterized by rare giant cell formation without necrosis.

Conclusion:

DC generally shows X-linked recessive inheritance along with autosomal dominant and recessive forms. Although the pathogenesis of the disease is still unknown, DKC1 gene localized to Xq28 is thought to be responsible for the X-linked DC. Our patient is still genetically studied. In this syndrome, the association of hypothyroidism and hypogonadism should be kept in mind.