scholarly journals A Novel Mutation ofdesert hedgehogin a Patient with 46,XY Partial Gonadal Dysgenesis Accompanied by Minifascicular Neuropathy

2000 ◽  
Vol 67 (5) ◽  
pp. 1302-1305 ◽  
Author(s):  
Fujio Umehara ◽  
Genshu Tate ◽  
Kayoko Itoh ◽  
Naoki Yamaguchi ◽  
Tsutomu Douchi ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
Novel Mutation ◽  
Partial Gonadal Dysgenesis

scholarly journals A Novel Mutation of desert hedgehog in a Patient with 46,XY Partial Gonadal Dysgenesis Accompanied by Minifascicular Neuropathy

2000 ◽  
Vol 67 (5) ◽  
pp. 1302-1305 ◽  
Author(s):  
Fujio Umehara ◽  
Genshu Tate ◽  
Kayoko Itoh ◽  
Naoki Yamaguchi ◽  
Tsutomu Douchi ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
Novel Mutation ◽  
Desert Hedgehog ◽  
Partial Gonadal Dysgenesis

scholarly journals A case report of 46,XY partial gonadal dysgenesis caused by a novel mutation in the sex-determining region gene

2020 ◽  
Vol 9 (6) ◽  
pp. 867-872
Author(s):  
Ke Xu ◽  
Na Su ◽  
Hong Zhang ◽  
Jingxin Zhu ◽  
Xinran Cheng
Keyword(s):  
Case Report ◽  
Gonadal Dysgenesis ◽  
Novel Mutation ◽  
Region Gene ◽  
Partial Gonadal Dysgenesis

NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations

2016 ◽  
Vol 10 (4) ◽  
pp. 191-199 ◽  
Author(s):  
Helena C. Fabbri ◽  
Juliana G. Ribeiro de Andrade ◽  
Andréa T. Maciel-Guerra ◽  
Gil Guerra-Júnior ◽  
Maricilda P. de Mello
Keyword(s):  
Gonadal Dysgenesis ◽  
Loss Of Function ◽  
Novel Mutations ◽  
Partial Gonadal Dysgenesis

scholarly journals Swyer Syndrome and 46,XY Partial Gonadal Dysgenesis Associated with 9p Deletions in the Absence of Monosomy-9p Syndrome

1998 ◽  
Vol 63 (3) ◽  
pp. 901-905 ◽  
Author(s):  
R.A. Veitia ◽  
M. Nunes ◽  
L. Quintana-Murci ◽  
R. Rappaport ◽  
E. Thibaud ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
Partial Gonadal Dysgenesis ◽  
Swyer Syndrome

A Novel Heterozygous Missense Variant of theFGFR2Gene in Two 46,XY Sisters with Non-Syndromic Partial Gonadal Dysgenesis

2011 ◽  
pp. P2-168-P2-168
Author(s):  
Aline Zamboni Machado ◽  
Mariza Gerdulo Santos ◽  
Mirian Yumie Nishi ◽  
Maira Pontual Brandao ◽  
Elaine Maria Frade Costa ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
Missense Variant ◽  
Partial Gonadal Dysgenesis

A novel mutation (c. 341A>G) in the SRY gene in a 46,XY female patient with gonadal dysgenesis

Gene ◽  
2013 ◽  
Vol 526 (2) ◽  
pp. 467-470 ◽  
Author(s):  
Zofia Helszer ◽  
Anita Dmochowska ◽  
Janusz Szemraj ◽  
Jolanta Słowikowska-Hilczer ◽  
Marek Wieczorek ◽  
...  
Keyword(s):  
Female Patient ◽  
Gonadal Dysgenesis ◽  
Novel Mutation ◽  
Sry Gene ◽  
Xy Female

Partial gonadal dysgenesis in a patient with a marker Y chromosome

1992 ◽  
Vol 42 (6) ◽  
pp. 807-812 ◽  
Author(s):  
Patricia Y. Fechner ◽  
Kirby D. Smith ◽  
Ethylin Wang Jabs ◽  
Claude J. Migeon ◽  
Gary D. Berkovitz
Keyword(s):  
Y Chromosome ◽  
Gonadal Dysgenesis ◽  
Partial Gonadal Dysgenesis

scholarly journals Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males

2014 ◽  
Vol 2014 ◽  
pp. 1-8 ◽  
Author(s):  
Juliana Gabriel Ribeiro de Andrade ◽  
Antonia Paula Marques-de-Faria ◽  
Helena Campos Fabbri ◽  
Maricilda Palandi de Mello ◽  
Gil Guerra-Júnior ◽  
...  
Keyword(s):  
Motor Development ◽  
Gonadal Dysgenesis ◽  
Final Height ◽  
Pubertal Development ◽  
Good Prognosis ◽  
Long Term Follow Up ◽  
Associated Conditions ◽  
Partial Gonadal Dysgenesis

Background/Aims. Studies on 46,XY partial gonadal dysgenesis (PGD) have focused on molecular, gonadal, genital, and hormone features; little is known about follow-up. Our aim was to analyze long-term outcomes of PGD.Methods. Retrospective longitudinal study conducted at a reference service in Brazil. Ten patients were first evaluated in the 1990s and followed up until the 2010s; follow-up ranged from 13.5 to 19.7 years. All were reared as males and had at least one scrotal testis; two boreNR5A1mutations. Main outcomes were: associated conditions, pubertal development, and growth.Results. All patients had normal motor development but three presented cognitive impairment; five had various associated conditions. At the end of the prepubertal period, FSH was high or high-normal in 3/6 patients; LH was normal in all. At the last evaluation, FSH was high or high-normal in 8/10; LH was high or high-normal in 5/10; testosterone was decreased in one. Final height in nine cases ranged from −1.57 to 0.80 SDS. All had spontaneous puberty; only one needed androgen therapy.Conclusions. There is good prognosis for growth and spontaneous pubertal development but not for fertility. Though additional studies are required, screening for learning disabilities is advisable.

scholarly journals 220 46,XY disorder of sex development – partial gonadal dysgenesis – case report

2021 ◽  
Author(s):  
Matea Melša ◽  
Miram Pasini ◽  
Nevena Krnić ◽  
Marija Mikloš ◽  
Kristina Crkvenac Gornik ◽  
...  
Keyword(s):  
Case Report ◽  
Gonadal Dysgenesis ◽  
Disorder Of Sex Development ◽  
Sex Development ◽  
Partial Gonadal Dysgenesis
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