scholarly journals 46,XY partial gonadal dysgenesis

2020 ◽  
Author(s):  
Keyword(s):  
Gonadal Dysgenesis ◽  
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

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

scholarly journals 46,XY and 45,X/46,XY testicular dysgenesis: similar gonadal and genital phenotype, different prognosis

2010 ◽  
Vol 54 (3) ◽  
pp. 331-334 ◽  
Author(s):  
Juliana Gabriel Ribeiro de Andrade ◽  
Gil Guerra-Júnior ◽  
Andréa Trevas Maciel-Guerra
Keyword(s):  
Cell Line ◽  
Gonadal Dysgenesis ◽  
Line Detection ◽  
Laboratory Findings ◽  
Diagnosis And Prognosis ◽  
Testicular Dysgenesis ◽  
Syndromic Diagnosis ◽  
Partial Gonadal Dysgenesis ◽  
Penoscrotal Hypospadias ◽  
Number Of Cells

The objective of this study was to describe the change in diagnosis and prognosis of a child with testicular dysgenesis and 46,XY karyotype after detection of a 45,X cell line and to discuss the difficulties caused by the terms mixed gonadal dysgenesis (MGD) and XY partial gonadal dysgenesis (XYPGD). One case was reported including clinical and laboratory findings of a child of 41-day-old infant with 1.3-cm phallus, penoscrotal hypospadias and left prepubertal testis. Karyotype 46,XY (16 cells), normal hormone levels. Right streak gonad, epididymis and müllerian remnants were removed; initial diagnosis was XYPGD. Persistent growth retardation led to further cytogenetic analysis (50 cells) and detection of a 45,X cell line. Detection of a 45,X lineage changed both the diagnosis to MGD and also the prognosis.The number of cells analyzed in karyotyping is critical. Use of MGD and XYPGD to designate both a histological picture and a syndromic diagnosis, results in lack of emphasis on clinical differences between 46,XY and 45,X/46,XY subjects.

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

Report of a kindred with X-linked (or autosomal dominant sex-limited) 46,XY partial gonadal dysgenesis.

1993 ◽  
Vol 76 (5) ◽  
pp. 1248-1253 ◽  
Author(s):  
P Y Fechner ◽  
S M Marcantonio ◽  
T Ogata ◽  
T O Rosales ◽  
K D Smith ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
Autosomal Dominant ◽  
Partial Gonadal Dysgenesis
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