منابع مشابه
The XY gonadal agenesis syndrome.
A patient with a 46,XY chromosome constitution showed the following main characteristics: eunuchoidal body habitus, lack of secondary sexual development, normal female external genitalia with absence of vagina, no gonadal structures, and complete lack of internal genitalia except for rudimentary ductal structures defined by histological examination. Her condition is clearly different from that ...
متن کاملPseudohermaphroditism due to XY gonadal absence syndrome.
A 21-year-old phenotypic female with a 46,XY chromosome complement and gonadal absence was studied. Basal levels of plasma immunoreactive luteinizing hormone (LH), follicle stimulating hormone (FSH), testosterone, and oestradiol were measured. Pituitary sensitivity and reserve was evaluated by the exogenous administration of synthetic luteinizing hormone-releasing hormone. The episodic release ...
متن کاملFamilial XY gonadal dysgenesis.
Gonadal dysgenesis is a condition characterized by streak gonads in subjects who present the phenotypic appearance of females. In pure gonadal dysgenesis, unlike Turner's syndrome, no associated somatic anomalies are found; the adult is of normal or above average stature and may have eunuchoidal proportions (Sohval, 1965). The term 'XY gonadal dysgenesis' refers to patients with pure gonadal dy...
متن کاملLaparoscopic Gonadectomy in 46,xy Gonadal Dysgenesis
We reported a case of a 17 year-old female, who presented with primary amenorrhea. She had normal female external genitalia and a 46,XY karyotype. Hormone profiles and laparoscopic findings confirmed a diagnosis of 46,XY gonadal dysgenesis (Swyer syndrome). Prophylactic gonadectomy was performed laparoscopically to prevent the risk of malignant germ cell tumor. Current management of this rare s...
متن کاملAgenesis of the corpus callosum with mosaicism 46,XY/47,XY, extra ring chromosome.
A case of agenesis of the corpus callosum with a chromosomal abnormality is reported. The patient was a male infant, born to phenotypically normal, non-consanguineous parents. He had an abnormal phenotype, mental retardation, and chromosome mosaicism 46,XY/47,XY,+r. Chromosomal analysis of both parents showed a normal karotype. The origin of the small ring chromosome could not be determined and...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1973
ISSN: 1468-6244
DOI: 10.1136/jmg.10.3.288