Results 121 to 130 of about 2,312 (175)

Upstream SOX9 deletion in a 46,XY girl with acampomelic campomelic dysplasia and absent minipuberty. [PDF]

Orphanet J Rare Dis
Szoszkiewicz A, Bukowska-Olech E, Kurzawa P, Sowińska-Seidler A, Niedziela M, Kolesińska Z, Jamsheer A.   +6 more
europepmc   +1 more source

Prenatal diagnosis of 9p distal deletion associated with subependymal cysts: A case report and literature review. [PDF]

Medicine (Baltimore)
Zhang Y, Yue F, Qi T, Liu R.
europepmc   +1 more source

Genetic variants and molecular profiling of 46,XY gonadal dysgenesis using whole-exome sequencing. [PDF]

Front Endocrinol (Lausanne)
Zhang N, You S, Guo J, Chang X, Qiu J, Hua K.   +5 more
europepmc   +1 more source

Bilateral Testicular Regression Syndrome and Optic Nerve Atrophy: Clinical Aspects of a Child with a <italic>SEMA3E</italic> Loss-of-Function Variant.

Sex Dev
Wankanit S, Elzaiat M, Talouarn E, Schlick L, Bashamboo A, McElreavey K, Brauner R.   +6 more
europepmc   +1 more source

Gender Dysphoria in Disorders of Sexual Development: Approach and Prevalence in a Single Center.

J Indian Assoc Pediatr Surg
Inayath L, Mane S, Athawale HR.
europepmc   +1 more source

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Pure 46,XY gonadal dysgenesis

Orvosi Hetilap, 2010
A szerzők 46,XY tiszta gonáddiszgenezis (Swyer-szindróma) esetük kórtörténetét mutatják be. A Swyer-szindróma jellemzői a 46,XY karyotypus, primer amenorrhoea, női belső nemi szervek, kétoldali csíkgonád és a női fenotípus. A szindróma számos jól ismert gén mutációjával áll összefüggésben, amelyek szerepet játszanak a heredifferenciálódás kaszkádjában.
László, Ságodi, Erzsébet, Ladányi, Ákos, Kiss, Attila, Tar, Valéria, Lukács, Károly, Minik, Ildikó, Vámosi   +6 more
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Ovarian development in 46,XY gonadal dysgenesis

Human Genetics, 1982
In humans the XY ovary is degenerative, there being scant evidence of persistence of that organ beyond the perinatal period. Here we describe indications of functional ovarian tissue in a 17-year-old female with male karyotype, H-Y+ cellular phenotype, and some signs of the Turner syndrome.
M H, Russell, S S, Wachtel, B W, Davis, L T, Cahill, E, Groos, G D, Niblack, I M, Burr   +6 more
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Abnormal streak gonads in 46,XY complete gonadal dysgenesis

Fertility and Sterility, 2011
To describe the surgical findings in two adolescents with 46,XY complete gonadal dysgenesis.Report of two cases.University teaching hospital.Two adolescents with 46,XY complete gonadal dysgenesis who underwent laparoscopic bilateral gonadectomy.Laparoscopic bilateral gonadectomy.Removal of dysgenetic gonads.One benign fibrothecoma and one ...
Leo F, Doherty, Beth W, Rackow
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H-Y antigen in 46,XY gonadal dysgenesis

Human Genetics, 1980
Presence of H-Y antigen has been correlated with testicular differentiation, and absence of H-Y with failure of testicular differentiation, in a variety of mammalian species. To determine more precisely the relationship between expression of H-Y antigen and development of the testis, we studied the cells of phenotypic females with the 46,XY male ...
S S, Wachtel, G C, Koo, A, de la Chapelle, H, Kallio, J M, Heyman, O J, Miller   +5 more
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46,XY Pure Gonadal Dysgenesis

Obstetrics & Gynecology, 1980
A review of 2 cases of 46,XY pure gonadal dysgenesis (Swyer's syndrome) is presented. In one, bilateral gonadoblastomas with dysgerminomas were found at the time of laparotomy for gonadal extirpation. The second case was of interest because of endometriosis on the mesosalpinx, an entity heretofore undescribed in pure gonadal dysgenesis.
D W, Doty, J S, Gruber, G C, Wolf, R C, Winslow   +3 more
openaire   +2 more sources