mulibrey nanism is a rare autosomal recessive syndrome caused by a mutation in the trim37 gene with severe growth retardation and multiple organ involvement. early diagnosis is important because 50% of the patients develop congestive heart failure owing to constrictive pericarditis, and this condition plays a critical role in the final prognosis. a 37-year-old female patient presented with symp...

Premature ovarian failure (POF) is a primary ovarian defect characterized by absent menarche (primary amenorrhea) or premature depletion of ovarian follicles before the age of 40 years (secondary amenorrhea). It is a heterogeneous disorder affecting approximately 1% of women <40 years, 1:10,000 women by age 20 and 1:1,000 women by age 30. The most severe forms present with absent pubertal devel...

Premature ovarian failure (POF) is a primary ovarian defect characterized by absent menarche (primary amenorrhea) or premature depletion of ovarian follicles before the age of 40 years (secondary amenorrhea). It is a heterogeneous disorder affecting approximately 1% of women <40 years, 1:10,000 women by age 20 and 1:1,000 women by age 30. The most severe forms present with absent pubertal devel...