Results 91 to 100 of about 2,046,764 (189)
Clinical and Reproductive Characteristics of Patients with Mixed Gonadal Dysgenesis (45,X/46, XY). [PDF]
J Obstet Gynaecol India, 2021 Das DV, Jabbar PK.
europepmc +1 more source
Camptomelic dwarfism associated with XY-gonadal dysgenesis and chromosome anomalies.
, 1978 We have studied two female newborns with comptomelic dwarfism, XY-gonadal dysgenesis and chromosome anomalies. The preponderance of females among the hitherto reported cases of this allegedly autosomal recessive form of lethal drawfism may be due to an
Hoefnagel, D +4 more
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Research Progress on Short Stature Accompanied by Disorders of Sex Development
Xiehe Yixue ZazhiShort stature(SS) and disorder of sex development(DSD) are two types of conditions characterized by high clinical heterogeneity and complex etiology.
GONG Xinran +3 more
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Growth Hormone Dynamics among Children with Mixed Gonadal Dysgenesis (45,X/46,XY). [PDF]
Acta Endocrinol (Buchar), 2021 Das D.
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Mixed Gonadal Dysgenesis in Triple Mosaicism with Non-Fluorescent Y Chromosome
A 16-month-old male infant with ambiguous genitalia is reported. Karyotype of the patient revealed a 45, X/46, Xyq-/47, Xyq-Yq-mosaicism in blood and 45, X/47, Xyq-Yq- in gonadal tissue.
Yokoyama, Hiroshi, Yanagisawa, Satoshi
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Detection of Y mosaicism in gonadal dysgenesis [PDF]
, 1999 Objective: The presence of Y chromosome in patients with gonadal dysgenesis is related to the risk of gonadoblastoma. Since the patients with abnormal sexual differentiation may have cryptic Y mosaicism, it is important to detect the presence of Y ...
배상욱, 김세광
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Gonadal dysgenesis and hermaphroditism
, 2020 This thesis has developed from a study of a series of patients with a gonadal dysgenesis. Shortly after the inception of the study, Pelani and his co-workers (1954) published a report on the nuclear chromatin pattern in three cases of the syndrome. Their
Hoffenberg, Raymond
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Novel variant in WT1 gene associated with MGD and unique kidney disease phenotype
Journal of Rare DiseasesIntroduction Wilms tumor 1 (WT1)-related disorders are a group of hereditary disorders caused by alterations in the WT1 gene. WT1 expression is critical for the maturation of many organs, such as the gonads, kidneys, and spleen.
Heba A. Hassan +5 more
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A case of mixed gonadal dysgenesis with 45 X/46 XY karyotype and aortic coarctation
, 1993 We report a case of mixed gonadal dysgenesis with 45 X/46 XY karyotype and aortic coarctation. An eight month-old patient was admitted to our endocrinology department for evaluation of ambiguous genitalia.
Ozen, E. +5 more
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