Results 101 to 110 of about 12,853 (226)

Malignant Leydig Cell Tumor in Elderly Complete Androgen Insensitivity Patient: A Case Report

open access: yesJournal of Nepal Medical Association, 2019
There are various cause of Primary amenorrhea in phenotypically females such as, complete androgen insensitivity syndrome, pure gonadal dysgenesis, 17b-hydroxysteroid dehydrogenase deficiency, or mixed gonadal dysgenesis.
Sundar Shrestha   +3 more
doaj   +1 more source

A boy or a girl? : Parental, family and whanau information needs when a child is born with an intersex/DSD condition : a thesis presented in fulfilment of the requirements for the degree of MPHIL in Nursing at Massey University, Auckland, New Zealand [PDF]

open access: yes, 2008
Is it a girl or a boy? This is a question that new parents assume will be answered at the birth, or even in the months leading up to the birth of their baby.
McCarthy, Gabrielle Leigh
core  

Coexistence of Gonadal Dysgenesis and Mullerian Agenesis in a Female with 46 XX Karyotype: A Case Report

open access: yesJournal of Nepal Medical Association, 2019
Gonadal dysgenesis is a rare genetically heterogeneous disorder characterized by underdeveloped ovaries with consequent, impuberism, primary amenorrhea, and hypergonadotropic hypogonadism .Mullerian agenesis or Mayer‑Rokitansky‑Kuster‑Hauser syndrome is ...
Santosh Kumar Jha   +2 more
doaj   +1 more source

Domesticated P elements in the Drosophila montium species subgroup have a new function related to a DNA binding property. [PDF]

open access: yes, 2005
Molecular domestication of a transposable element is defined as its functional recruitment by the host genome. To date, two independent events of molecular domestication of the P transposable element have been described: in the Drosophila obscura species
Anxolabéhère, Dominique   +3 more
core   +5 more sources

Congenital Lipoid Adrenal Hyperplasia, as a Poorly Understood Cause of 46 XY Sexual Differentiation Disorder

open access: yesCase Reports in Endocrinology
Summary. Disorders of sexual differentiation are defined as congenital alterations between chromosomal, gonadal, and phenotypic sex. The principal cause of these disorders is an adrenal origin; however, there are infrequent causes, such as congenital ...
Raúl Villanueva Rodríguez   +5 more
doaj   +1 more source

design, methodology, recruitment, data quality and study population [PDF]

open access: yes, 2017
Background dsd-LIFE is a comprehensive cross-sectional clinical outcome study of individuals with disorders/differences of sex development (DSD).
Bouvattier, Claire   +9 more
core   +1 more source

Disorders of sex development (DSD): an overview of recent scientific advances [PDF]

open access: yes, 2014
Developments in biotechnology have radically altered clinical and research themes in the small field of disorders of sex development, as in other rare medical conditions. In the age of genetics, an increasing number of DSDs have been identified. Aided by
Conway, GS
core  

Ovarian dysgenesis associated with an unbalanced X;6 translocation: first characterisation of reproductive anatomy and cytogenetic evaluation in partial trisomy 6 with breakpoints at Xq22 and 6p23. [PDF]

open access: yes, 2012
The aim of this study was to describe the clinical and laboratory findings associated with a previously unreported unbalanced X;6 translocation. Physical examination, reproductive history and cytogenetic techniques were used to characterise a novel ...
Cotter, Philip D   +5 more
core   +1 more source

Contemporary issues in primary amenorrhea: An experience from a Tertiary Care Center

open access: yesIndian Journal of Endocrinology and Metabolism, 2012
Introduction: Amenorrhea is classified as primary if menstrual bleeding has never occurred in the absence of hormonal treatment. The clinical significance of a lack of regular menstrual cycles extends beyond reproductive concerns.
Ashok Krishna Bhuyan   +2 more
doaj   +1 more source

Early development of a gonadal tumor in a patient with mixed gonadal dysgenesis

open access: yesArchives of Endocrinology and Metabolism
SUMMARY A gonadal tumor was diagnosed in the first months of life in a patient with genital ambiguity, a 45,X/46,XY karyotype, and mixed gonadal dysgenesis.
Sarah Crestian Cunha   +7 more
doaj   +1 more source

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