• No results found

[PDF] Top 20 Prepubertal XY Gonadal Dysgenesis

Has 703 "Prepubertal XY Gonadal Dysgenesis" found on our website. Below are the top 20 most common "Prepubertal XY Gonadal Dysgenesis".

Prepubertal XY Gonadal Dysgenesis

Prepubertal XY Gonadal Dysgenesis

... The second child (a 2- ‘ear-old girl) showed poor isicai development and slight virilization of the genitalia. Her bilateral dsgenetic gonads were removed at exploratory laparotomv. The [r] ... See full document

7

Growth data and tumour risk of 32 Chinese children and adolescents with 45,X/46,XY mosaicism

Growth data and tumour risk of 32 Chinese children and adolescents with 45,X/46,XY mosaicism

... had gonadal pathological results. Complete gonadal dysgenesis (CGD) and mixed gonadal dysgenesis (MGD) were the most common pathogenic subtypes, accounting for ... See full document

7

State of the art review in gonadal dysgenesis: challenges in diagnosis and management

State of the art review in gonadal dysgenesis: challenges in diagnosis and management

... with XY gonadal dysgenesis ...[6]. Gonadal dysgenesis is a known risk factor for CIS ...with XY gonadal dysgenesis, gonadectomy typically is re- commended, but ... See full document

17

A novel, homozygous mutation in desert hedgehog (DHH) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report

A novel, homozygous mutation in desert hedgehog (DHH) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report

... Case presentation: A 14-year-old, phenotypic female presented with primary amenorrhoea and absent secondary sex characteristics. Investigations revealed elevated gonadotrophins with low oestradiol, testosterone of 0.6 ... See full document

9

Association of immunohistochemical markers with premalignancy in Gonadal Dysgenesis

Association of immunohistochemical markers with premalignancy in Gonadal Dysgenesis

... of gonadal malignancy is necessary in the decision-making process for performing a ...in gonadal tissue, are known to influence the risk of developing gonadal ...veloping gonadal malignancy in ... See full document

12

The p.R92W variant of NR5A1/Nr5a1 induces testicular development of 46,XX gonads in humans, but not in mice: phenotypic comparison of human patients and mutation-induced mice

The p.R92W variant of NR5A1/Nr5a1 induces testicular development of 46,XX gonads in humans, but not in mice: phenotypic comparison of human patients and mutation-induced mice

... Nuclear receptor subfamily 5 group A member 1 (NR5A1) plays a critical role in the development of the adrenal gland and gonad in human [1, 2]. Heterozygous loss-of-function mutations in NR5A1 account for a cer- tain ... See full document

5

<p>Postchemotherapy sarcoma as a somatic-type malignancy derived from the gonadal yolk sac tumor in a patient with 46, XY pure gonadal dysgenesis</p>

<p>Postchemotherapy sarcoma as a somatic-type malignancy derived from the gonadal yolk sac tumor in a patient with 46, XY pure gonadal dysgenesis</p>

... In summary, we report a unique case of gonadal YST transformed into SMs in a patient with 46, XY PGD. Prophy- lactic gonadectomy is highly recommended for this patient. Apart from teratoma, YST can be one ... See full document

8

Dysgerminoma in a case of 46, XY pure gonadal dysgenesis (swyer syndrome): a case report

Dysgerminoma in a case of 46, XY pure gonadal dysgenesis (swyer syndrome): a case report

... age of 20 because she stopped the pills. Chromosome analysis with fluorescence in situ hybridization revealed 46, XY. Color doppler imaging (CDI) showed the uterus was 3.22 × 5.19 × 2.80 cm, thickness of the ... See full document

6

Gonadal sex reversal in mutant Dax1 XY mice: a failure to
upregulate Sox9 in pre Sertoli cells

Gonadal sex reversal in mutant Dax1 XY mice: a failure to upregulate Sox9 in pre Sertoli cells

... abnormal gonadal development and differentiation (reviewed by Warne and Kanumakala, ...example, XY humans with a duplication of a 160 kb region on chromosome Xp21 exhibit gonadal dysgenesis ... See full document

10

Rudimentary Testes Syndrome Revisited

Rudimentary Testes Syndrome Revisited

... dysgenesis, XY hermaphrodism, XY mixed gonadal dys- genesis, and congenital anorchia, probably resulting from fetal regression of the testes.. The observed familial oc- currence of the s[r] ... See full document

8

Wild-Derived XY Sex-Reversal Mutants in the Medaka, Oryzias latipes

Wild-Derived XY Sex-Reversal Mutants in the Medaka, Oryzias latipes

... and XY donor chimeras of me- daka develop into males that have only XX germ cells (S hinomiya et ...the XY somatic donor cells, the minor component in these chimeras, could induce sex reversal of the XX ... See full document

8

Gonadal response after a single-dose stimulation test with recombinant human chorionic gonadotropin (rhCG) in patients with isolated prepubertal cryptorchidism

Gonadal response after a single-dose stimulation test with recombinant human chorionic gonadotropin (rhCG) in patients with isolated prepubertal cryptorchidism

... An increase in inhibin B, which was observed after the hCG stimulation in this study, was also demonstrated in a previous report [13] of cryptorchidism patients treated with intramuscular uhCG in a 3-week stimulation ... See full document

6

Correlation of serum follicular stimulating hormone (FSH) and luteinizing hormone (LH) as measured by radioimmunoassay in disorders of sexual development

Correlation of serum follicular stimulating hormone (FSH) and luteinizing hormone (LH) as measured by radioimmunoassay in disorders of sexual development

... 32 of 35 gonadal dysgenesis patients (ages 4.8-18.9 yr) had serum FSH levels which were elevated above the range of normal for chronological age, and 19 had serum LH levels similarly elevated. All patients ... See full document

7

HYBRID DYSGENESIS IN DROSOPHILA MELANOGASTER: MORPHOLOGICAL AND CYTOLOGICAL STUDIES OF OVARIAN DYSGENESIS

HYBRID DYSGENESIS IN DROSOPHILA MELANOGASTER: MORPHOLOGICAL AND CYTOLOGICAL STUDIES OF OVARIAN DYSGENESIS

... Second, the larval ovaries in cross A flies exposed to high developmental temperatures are often so reduced in size that they must be stained and whole- mounted in order to be seen.[r] ... See full document

12

Segmental Spinal Dysgenesis: Neuroradiologic Findings with Clinical and Embryologic Correlation

Segmental Spinal Dysgenesis: Neuroradiologic Findings with Clinical and Embryologic Correlation

... Other considerations regarding the presence of lower cord segments in most cases of SSD deserve mention. First, because this lower segment is in- variably low-lying, postneurulation ischemic dam- age (4, 31) seems ... See full document

12

Pituitary hyperplasia: case series and literature review of an under-recognised and heterogeneous condition

Pituitary hyperplasia: case series and literature review of an under-recognised and heterogeneous condition

... primary gonadal insufficiency, with histopathological confirmation including gonadal-deficiency cells in the third case where surgery could have been ... See full document

7

Positioning control of XY table

Positioning control of XY table

... x LIST OF FIGURES FIGURE TITLE PAGE 1.1 GXY series XY table used in this project 2 2.1 Proposed friction model at velocity reversal [ 19] 7 2.2 Conventional PID control system 8 2.3 Feed[r] ... See full document

24

Loss of DMRT1 gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)× 2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature

Loss of DMRT1 gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)× 2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature

... Chromosome 9 aberrations involving the terminal end of p arm, such as terminal p deletions or ring chromosomes have been reported to cause 46,XY DSD. This terminal re- gion of chromosome 9p (9p24.3 region) ... See full document

7

EFFEMINACY IN PREPUBERTAL BOYS

EFFEMINACY IN PREPUBERTAL BOYS

... Another boy of 1 1, followed for 2 years and the least extreme of our cases of gender- role disturbance, has not changed consid- erably since first seen. He is still a quiet, lonely, wit[r] ... See full document

8

Diversity of P-element piRNA production among M&#039; and Q strains and its association with P-M hybrid dysgenesis in Drosophila melanogaster

Diversity of P-element piRNA production among M' and Q strains and its association with P-M hybrid dysgenesis in Drosophila melanogaster

... hybrid dysgenesis, the Q strains produce a greater number of piRNAs that enact maternal ...hybrid dysgenesis, the Q strains repress dysgenesis both maternally and paternally through KP-mediated ... See full document

10

Show all 703 documents...