Endocrine Abstracts

Aim: The Swyer syndrome belongs to a group of pure gonadal dysgenesis. Karyotype is 46,XY. Aberrations of chromosome Y or SRY gene mutation is present in 15–30% of cases. These patients have high gonadotropin levels and are classified as having hypergonadotropic hypogonadism. The Swyer syndrome in the female requires close followup because of the high risk of neoplastic transformation in the dysgenetic gonads. Herein we report a case of Swyer syndrome with gonadoblastoma ...

Introduction: Pseudohypoparathyroidism (PHP) is a rare disease characterized by end-organ resistance to parathyroid hormone, causing hypocalcemia with hyperphosphatemia and elevated parathormone (PTH) levels. A prevalence of 3.4/million has been reported. Here, we present a rare case with PHP.Case report: A 28-year-old male patient with spasms in hands and feet was evaluated in the outpatient department of neurology and was referred to endocrinology clin...

Introduction: Dyskeratosis congenita is a rare multisystemic disease characterised with atrophy on skin, pigmentation, nail dystrophy, leukoplakia in mucous membrane, bone marrow failure, and tendency to malignancy. We present a rare case of dyskeratosis congenita associated with hypothyroidism and hypogonadism.Case: A 30-year-old male patient was referred to Endocrinology Department with the findings of micropenis and atrophic testicles. His parents had...