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Start Over Descriptor "46 xx" Topic family
2 results on '"46 xx"'

1. Familial primary ovarian insufficiency (POI) - A unique familial association.

Author

Singh, Shalini and Sharmila, Vijayan

Subjects
FOLLICLE-stimulating hormone, HORMONE therapy, AMENORRHEA, ESTROGEN, UTERINE diseases, OVARIAN diseases, GENETIC techniques, HEMORRHAGE
Abstract

Amenorrhea means absence of menses and is broadly divided in to two types: primary and secondary. Primary ovarian insufficiency is attainment of cessation of menses before the age of menopause with clinically elevated levels of follicle-stimulating hormone and low reserves of estrogen. The present case report takes into account a familial pattern of primary ovarian insufficiency with hypoplastic uterus in two generations of a family. [ABSTRACT FROM AUTHOR]

Published
2023
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2. Pure gonadal dysgenesis (46 XX type) with a familial pattern

Author

Setila Dalili, Shahin Kohmanaee, and Afagh Hassanzadeh Rad

Subjects
medicine.medical_specialty, Breast development, endocrine system, family, gonadal dysgenesis, business.industry, Secondary sex characteristic, XX gonadal dysgenesis, Gonadal dysgenesis, Case Report, General Medicine, medicine.disease, Pubic hair, 46 XX, Endocrinology, medicine.anatomical_structure, Internal medicine, Medicine, Amenorrhea, medicine.symptom, business, siblings, Pure gonadal dysgenesis, Normal female
Abstract

46, XX gonadal dysgenesis without the phenotype of Turner's syndrome is described as "pure". Although, previous investigations obtained that commonly gonadal dysgenesis did not cause breast development as a result of low levels of circulating estradiol. However, in this study, we aimed to report a familial pure gonadal dysgenesis with and without normal secondary sexual characteristics. In this study, we reported three siblings with pure gonadal dysgenesis with and without normal secondary sexual characteristics. The elder two sisters had a normal female phenotype and the youngest had amenorrhea with no breast development (B1) and pubic hair. In addition, it seems that the absence of pubic hair occurred due to delayed constitutional puberty. According to results, it seems that clinicians should consider different presentations for pure gonadal dysgenesis with familial pattern.

Published
2015

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