Premature ovarian failure, absence of pubic and axillary hair with de novo 46,X,t(X;15)(q24;q26.3).

A de novo Reciprocal X; 9 Translocation in A Patient with Premature Ovarian Failure

A de novo Reciprocal X; 9 Translocation in A Patient with Premature Ovarian Failure

Premature ovarian failure (POF) causes hypergonadotrophic amenorrhea in 1-3% of females, occurring before the age of 40 among women with chromosomal rearrangements in the long arm of the X chromosome 'critical region'. In this article, we report a case of POF and primary amenorrheain a girl with a de novo reciprocal translocation between chromosomes X and 9. The proband was a 17 years old girl ...

I-41: Genetic Causes of Premature Ovarian Failure (POF) and early Menopause

Premature ovarian failure (POF) is a heterogeneous disorder, defined as menopause under age 40 years. The prevalence is 1%; POF before age 30 years is much less common. Chromosomal causes have long been recognized - visible deletions of the X chromosome, 45,X/46,XX mosaicism, and autosomal rearrangements (balanced translocations). Toxins or iatrogenic causes (e.g., chemotherapeutic agents) are ...

Approach to the girl with early onset of pubic hair.

Premature pubarche, or the development of pubic hair before the age of 8 in girls or 9 in boys, is most commonly caused by premature adrenarche. Adrenarche is the maturation of the adrenal zona reticularis in both boys and girls, resulting in the development of pubic hair, axillary hair, and adult apocrine body odor. Although originally thought to be a benign variant of normal development, prem...

Inm-7: Genetic Etiologies of Premature Ovarian Failure

Premature Ovarian Failure (POF) defined as functional stop of ovaries before the age of 40. It is a common cause of infertility in women that characterized by primary or secondary amenorrhea, high gonadotropin levels and estrogen level declining in patients. Factors that reduce follicle or defect in the follicle growth stimulating mechanism defined as numerous complication factors that they can...