Works about GONADAL dysgenesis

Results: 545

Misdiagnosis of Mullerian agenesis coexisting with gonadal dysgenesis: A clandestine uterus by estrogen deficiency.

Published in:

2021

By:

Kisu, Iori;
Banno, Kouji;
Hirao, Nobumaru

Publication type:

Case Study

Mayer‐Rokitansky‐Küster‐Hauser syndrome with a uterine cervix and normal vagina associated with gonadal dysgenesis in a 46,XX female.

Published in:

Journal of Obstetrics & Gynaecology Research, 2019, v. 45, n. 7, p. 1386, doi. 10.1111/jog.13956

By:

Ono, Ayumi;
Iijma, Tomoko;
Katayama, Motoko;
Iura, Ayaka;
Hirao, Nobumaru;
Kisu, Iori

Publication type:

Article

Uterine cervical adenocarcinoma metastasizing concurrently to eutopic and ectopic ovaries: A case report.

Published in:

Journal of Obstetrics & Gynaecology Research, 2016, v. 42, n. 7, p. 899, doi. 10.1111/jog.12977

By:

Kiuchi, Kaori;
Hasegawa, Kiyoshi;
Nagai, Tatsuko;
Watanabe, Mariko;
Kosaka, Nobuaki;
Machida, Hiromi;
Imai, Yasuo;
Fukasawa, Ichio

Publication type:

Article

Presence of viable germ cells in testicular regression syndrome remnants: Is routine excision indicated? A systematic review.

Published in:

2018

By:

Nataraja, Ramesh Mark;
Yeap, Evie;
Healy, Costa J.;
Nandhra, Inderpal S.;
Murphy, Feilim L.;
Hutson, John M.;
Kimber, Chris

Publication type:

journal article

Laparoscopic management of impalpable testes: comparison of different techniques.

Published in:

2011

By:

Singh, Rashmi;
Rajimwale, Ashok;
Nour, Shawqui;
Singh, Rashmi R

Publication type:

journal article

Rare anastomosis between the bilateral internal carotid arteries via the recurrent arteries branching from the first segment of the ophthalmic artery.

Published in:

Neuroradiology, 2022, v. 64, n. 7, p. 1461, doi. 10.1007/s00234-022-02965-2

By:

Ando, Mitsushige;
Maki, Yoshinori;
Hojo, Masato;
Hatano, Taketo

Publication type:

Article

A case of XY pure gonadal dysgenesis with 46,XYp-/47,XXYp- karyotype whose gonadoblastoma was removed laparoscopically.

Published in:

2000

By:

Takai, Yasushi;
Tsutsumi, Osamu;
Harada, Ikuko;
Morita, Yutaka;
Momoeda, Mikio;
Fukushima, Yoshimitsu;
Taketani, Yuji;
Takai, Y;
Tsutsumi, O;
Harada, I;
Morita, Y;
Momoeda, M;
Fukushima, Y;
Taketani, Y

Publication type:

journal article

Nonneoplastic gonadal testosterone secretion as a cause of vaginal cell maturation in streak gonad syndrome.

Published in:

1986

By:

Bősze, P.;
Számel, I.;
Molnár, F.;
László, J.;
Bösze, P;
Számel, I;
Molnár, F;
László, J

Publication type:

journal article

Prenatal Findings in Postnatal Cases of Disorders of Sex Development: Experience from a Tertiary-Specialized Center in Brazil.

Published in:

Fetal Diagnosis & Therapy, 2024, v. 51, n. 1, p. 49, doi. 10.1159/000534401

By:

Cursino, Kleber Andrade;
Garcia, Guilherme Mantelato;
Barros, Beatriz Amstalden;
Mazzola, Tais Nitsch;
Fabbri-Scallet, Helena;
Guaragna, Mara Sanches;
Vieira, Tarsis Antonio Paiva;
Mello, Maricilda Palandi de;
Maciel-Guerra, Andrea Trevas;
Guerra-Junior, Gil

Publication type:

Article

A Rare Cause of Male Infertility: Mixed Gonadal Dysgenesis.

Published in:

Endocrinology Research & Practice, 2024, v. 28, n. 2, p. 130, doi. 10.5152/erp.2024.23344

By:

Eroğlu, Ceren Erdoğan;
Görar, Süheyla;
Paksoy, Barış

Publication type:

Article

A Diagnosis of Turner Syndrome in the Eighth Decade of Life.

Published in:

JCEM Case Reports, 2024, v. 2, n. 6, p. 1, doi. 10.1210/jcemcr/luae104

By:

Kaur, Ruveena;
O'Sullivan, Susannah

Publication type:

Article

Gonadal Failure in a Male With 3-M Syndrome.

Published in:

JCEM Case Reports, 2024, v. 2, n. 6, p. 1, doi. 10.1210/jcemcr/luae084

By:

Aldhoon-Hainerova, Irena;
Baranowski, Elizabeth;
Kinning, Esther;
Dias, Renuka P

Publication type:

Article

A Novel Variant in NR5A1 Presenting as 46,XY Difference of Sex Development.

Published in:

JCEM Case Reports, 2023, v. 1, n. 5, p. 1, doi. 10.1210/jcemcr/luad103

By:

Yu, Yunting;
Lee, Peter A;
Huerta-Saenz, Lina;
Allen, Natalie G

Publication type:

Article

Siblings With HNF4A Congenital Hyperinsulinism From Possible Parental Gonadal Mosaicism.

Published in:

JCEM Case Reports, 2023, v. 1, n. 4, p. 1, doi. 10.1210/jcemcr/luad089

By:

Wolschendorf, Robin;
Eimicke, Toni;
Swartz, Jonathan

Publication type:

Article

Menopause: a trigger for simultaneous development of ulcerative colitis in sigmoid neovagina and residual colorectum?

Published in:

Minerva Obstetrics & Gynecology, 2024, v. 76, n. 3, p. 293, doi. 10.23736/S2724-606X.23.05224-7

By:

CANDIANI, Massimo;
FEDELE, Francesco;
DI FATTA, Simona;
TACCAGNI, Gianluca;
DOLCI, Carolina;
RUFFOLO, Alessandro F.

Publication type:

Article

A Risk of Gonadoblastoma in Familial Swyer Syndrome—A Case Report and Literature Review.

Published in:

2024

By:

Rudnicka, Ewa;
Jaroń, Aleksandra;
Kruszewska, Jagoda;
Smolarczyk, Roman;
Jażdżewski, Krystian;
Derlatka, Paweł;
Kucharska, Anna Małgorzata

Publication type:

Case Study

The Role of MCM9 in the Etiology of Sertoli Cell-Only Syndrome and Premature Ovarian Insufficiency.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 3, p. 990, doi. 10.3390/jcm12030990

By:

Potorac, Iulia;
Laterre, Marie;
Malaise, Olivier;
Nechifor, Vlad;
Fasquelle, Corinne;
Colleye, Orphal;
Detrembleur, Nancy;
Verdin, Hannah;
Symoens, Sofie;
De Baere, Elfride;
Daly, Adrian F.;
Bours, Vincent;
Pétrossians, Patrick;
Pintiaux, Axelle

Publication type:

Article

MYRF: A New Regulator of Cardiac and Early Gonadal Development—Insights from Single Cell RNA Sequencing Analysis.

Published in:

Journal of Clinical Medicine, 2022, v. 11, n. 16, p. 4858, doi. 10.3390/jcm11164858

By:

Calonga-Solís, Verónica;
Fabbri-Scallet, Helena;
Ott, Fabian;
Al-Sharkawi, Mostafa;
Künstner, Axel;
Wünsch, Lutz;
Hiort, Olaf;
Busch, Hauke;
Werner, Ralf

Publication type:

Article

Disorders of Sex Development: Classification, Review, and Impact on Fertility.

Published in:

Journal of Clinical Medicine, 2020, v. 9, n. 11, p. 3555, doi. 10.3390/jcm9113555

By:

Acién, Pedro;
Acién, Maribel

Publication type:

Article

Rare Causes of Primary Amenorrhea.

Published in:

Endokrinologiâ, 2019, n. 1, p. 36

By:

Tsvetanova, Tsvetelina A.;
Kaleva, Nartsis N.;
Grozdanova, Liljana I;
Andonova, Silvija I.;
Linev, Alexandar J.;
Pehlivanov, Blagovest K.;
Matev, Magdalen G.;
Dimitrova, Diana G.

Publication type:

Article

Distinctively Different Phenotypes of Two Cases with a Rare Karyotype of 45,X/47,XYY Mosaicism: Case Report and Literature Review.

Published in:

Journal of Pediatric Research, 2022, v. 9, n. 4, p. 401, doi. 10.4274/jpr.galenos.2022.36539

By:

Köprülü, Özge;
Acar, Sezer;
Erdoğan, Kadri Murat;
Nalbantoğlu, Özlem;
Kırkgöz, Tarık;
Arslan, Gülçin;
Özkaya, Beyhan;
Kutbay, Yaşar Bekir;
Özkan, Behzat

Publication type:

Article

Etiological Evaluation of Congenital Hypothyroidism in Cases Referred from the National Screening Program.

Published in:

Journal of Pediatric Research, 2021, v. 8, n. 1, p. 1, doi. 10.4274/jpr.galenos.2020.68736

By:

Tanyeri, Deniz;
Anık, Ayşe;
Cengiz, Arzu;
Polat, Yasemin Durum;
Ünüvar, Tolga;
Anık, Ahmet

Publication type:

Article

Tales from the clinic.

Published in:

2021

By:

Soffe, Karen;
Williams, Cara;
Briggs, Paula

Publication type:

journal article

Congenital Cystic Adenomatoid Malformation of Lung-Rare Case Report.

Published in:

2016

By:

Kamakeri, N. S.

Publication type:

Case Study

Congenital Lipoid Adrenal Hyperplasia, as a Poorly Understood Cause of 46 XY Sexual Differentiation Disorder.

Published in:

2024

By:

Villanueva Rodríguez, Raúl;
Vielma Valdez, Alberto;
Cassou Martinez, Maricruz;
Pérez Corrales, Laura Leticia;
de los Santos Aguilar, Ramón G.;
Sol Oliva, Luis David;
Kita, Toshihiro

Publication type:

Case Study

Challenges in Management of Ovotesticular Differences in Sex Development in Resource-Limited Settings.

Published in:

2024

By:

Asafo-Agyei, Serwah Bonsu;
Ameyaw, Emmanuel;
Nimako, Boateng;
Amoah, Michael

Publication type:

Case Study

Gonadoblastoma with Dysgerminoma Presenting as Virilizing Disorder in a Young Child with 46, XX Karyotype: A Case Report and Review of the Literature.

Published in:

Case Reports in Endocrinology, 2022, p. 1, doi. 10.1155/2022/5666957

By:

Chandrapattan, Prathamesh;
Jena, Amitabh;
Patnayak, Rashmi;
Mangaraj, Swayamsidha;
Naik, Sujata;
Panda, Saroj

Publication type:

Article

Cephalometric analysis of pharyngeal airway space dimensions in Turner syndrome.

Published in:

European Journal of Orthodontics, 2012, v. 34, n. 2, p. 219, doi. 10.1093/ejo/cjs001

By:

Eklund, Mikaela;
Kotilainen, Johanna;
Evälahti, Marjut;
Waltimo-Sirén, Janna

Publication type:

Article

A rare 47 XXY/46 XX mosaicism with clinical features of Klinefelter syndrome.

Published in:

International Journal of Pediatric Endocrinology, 2016, v. 2016, p. 1, doi. 10.1186/s13633-016-0029-3

By:

Mohd Nor, Noor Shafina;
Jalaludin, Muhammad Yazid

Publication type:

Article

Association of immunohistochemical markers with premalignancy in Gonadal Dysgenesis.

Published in:

International Journal of Pediatric Endocrinology, 2015, v. 2015, n. 1, p. 1, doi. 10.1186/s13633-015-0010-6

By:

McCann-Crosby, Bonnie;
Gunn, Sheila;
O'Brian Smith, E.;
Karaviti, Lefkothea;
John Hicks, M.

Publication type:

Article

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

Published in:

International Journal of Pediatric Endocrinology, 2014, v. 2014, n. 1, p. 1, doi. 10.1186/1687-9856-2014-4

By:

McCann-Crosby, Bonnie;
Mansouri, Roshanak;
Dietrich, Jennifer E.;
McCullough, Laurence B.;
Sutton, V. Reid;
Austin, Elise G.;
Schlomer, Bruce;
Roth, David R.;
Karaviti, Lefkothea;
Gunn, Sheila;
Hicks, M. John;
Macias, Charles G.

Publication type:

Article

A novel mutation in the SRY gene causing 46 XY complete gonadal dysgenesis in a Chinese patient.

Published in:

2013

By:

Elim Man;
Yuet-Ling Tung;
Ho-Ming Luk;
Fai-Man Ivan Lo;
Tak-Sum Stephen Lam;
Pik-To Cheung

Publication type:

Abstract

A Homozygous Missense Variant in Hedgehog Acyltransferase (HHAT) Gene Associated with 46,XY Gonadal Dysgenesis.

Published in:

2023

By:

Mazen, Inas;
Kamel, Alaa;
McElreavey, Kenneth;
Bashamboo, Anu;
Elaidy, Aya;
Abdel-Hamid, Mohamed S.

Publication type:

Case Study

A Homozygous Missense Variant in Hedgehog Acyltransferase (HHAT) Gene Associated with 46,XY Gonadal Dysgenesis.

Published in:

2022

By:

Mazen, Inas;
Kamel, Alaa;
McElreavey, Kenneth;
Bashamboo, Anu;
Elaidy, Aya;
Abdel-Hamid, Mohamed S.

Publication type:

Case Study

Genetic Variants in SRD5A2 in a Spectrum of DSD Patients from Australian Clinics Highlight Importance of Genetic Testing alongside Typical First-Line Investigations.

Published in:

Sexual Development, 2023, v. 17, n. 1, p. 8, doi. 10.1159/000527754

By:

Robevska, Gorjana;
Hanna, Chloe;
van den Bergen, Jocelyn;
Welch, John;
Couper, Jennifer;
Harris, Shannon;
Joshi, Kriti;
Brown, Justin;
Sabin, Matthew;
Sinclair, Andrew;
O'Connell, Michele;
Ayers, Katie

Publication type:

Article

DHX37 and 46,XY DSD: A New Ribosomopathy?

Published in:

Sexual Development, 2022, v. 16, n. 2/3, p. 194, doi. 10.1159/000522004

By:

McElreavey, Kenneth;
Pailhoux, Eric;
Bashamboo, Anu

Publication type:

Article

Pathogenic Variants in MAP3K1 Cause 46,XY Gonadal Dysgenesis: A Review.

Published in:

Sexual Development, 2022, v. 16, n. 2/3, p. 92, doi. 10.1159/000522428

By:

Ostrer, Harry

Publication type:

Article

The Desert Hedgehog Signalling Pathway in Human Gonadal Development and Differences of Sex Development.

Published in:

Sexual Development, 2022, v. 16, n. 2/3, p. 98, doi. 10.1159/000518308

By:

Pachernegg, Svenja;
Georges, Elizabeth;
Ayers, Katie

Publication type:

Article

DMRT1: An Ancient Sexual Regulator Required for Human Gonadogenesis.

Published in:

Sexual Development, 2022, v. 16, n. 2/3, p. 112, doi. 10.1159/000518272

By:

Zarkower, David;
Murphy, Mark W.

Publication type:

Article

A Small Supernumerary Xp Marker Chromosome Including Genes NR0B1 and MAGEB Causing Partial Gonadal Dysgenesis and Gonadoblastoma.

Published in:

2022

By:

Nishi, Mirian Yumie;
Faria Júnior, José Antônia Diniz;
Krepischi, Ana Cristina Victorino;
de Moraes, Daniela Rodrigues;
da Costa, Silvia Souza;
Silva, Elinaelma Suelane do Nascimento;
Costa, Elaine Maria Frade;
Mendonca, Berenice Bilharinho;
Domenice, Sorahia

Publication type:

Case Study

Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37.

Published in:

Sexual Development, 2021, v. 15, n. 4, p. 244, doi. 10.1159/000515924

By:

Zidoune, Housna;
Martinerie, Laetitia;
Tan, Daisylyn S.;
Askari, Masomeh;
Rezgoune, Djalila;
Ladjouze, Asmahane;
Boukri, Asma;
Benelmadani, Yasmina;
Sifi, Karima;
Abadi, Noureddine;
Satta, Dalila;
Rastari, Mandana;
Seresht-Ahmadi, Mehrshad;
Bignon-Topalovic, Joelle;
Mazen, Inas;
Leger, Juliane;
Simon, Dominique;
Brauner, Raja;
Totonchi, Mehdi;
Jauch, Ralf

Publication type:

Article

Association between Down Syndrome and Disorders of Sex Development: Report of Three Cases and Review of 188 Cases in the Literature.

Published in:

Sexual Development, 2020, v. 14, n. 1-6, p. 3, doi. 10.1159/000513415

By:

Santos-Neto, Octavio O.;
Mariano, Marina H.;
Marques-de-Faria, Antonia P.;
Andrade, Juliana G. R.;
Vieira, Tarsis A. P.;
Viguetti-Campos, Nilma L.;
dos Santos, Ana P.;
Mello, Maricilda P.;
Mazzola, Tais N.;
Guaragna, Mara S.;
Fabbri-Scallet, Helena;
Damiani, Durval;
Steinmetz, Leandra;
Ferreira, Marianna R.;
Saito, Paula A.;
Sievert, Jean C.;
Maciel-Guerra, Andrea T.;
Guerra-Junior, Gil

Publication type:

Article

Clinical Findings and Follow-Up of 46,XY and 45,X/46,XY Testicular Dysgenesis.

Published in:

Sexual Development, 2019, v. 13, n. 4, p. 171, doi. 10.1159/000504239

By:

andrade, Juliana G.R.;
Fabbri-Scallet, Helena;
dos Santos, ana P.;
Cools, Martine;
Werner, Ralf;
Hiort, Olaf;
de Mello, Maricilda P.;
Guerra-Júnior, Gil;
Maciel-Guerra, andrea T.

Publication type:

Article

Novel NR5A1 Pathogenic Variants Cause Phenotypic Heterogeneity in 46,XY Disorders of Sex Development.

Published in:

Sexual Development, 2019, v. 13, n. 4, p. 178, doi. 10.1159/000505527

By:

Sudhakar, Digumarthi V.S.;
Jaishankar, Shveta;
Regur, Phanindranath;
Kumar, Umesh;
Singh, Raghvendra;
Kabilan, Usha;
Namduri, Sree;
Dhyani, Jaishree;
Gupta, Nalini J.;
Chakravarthy, Baidyanath;
Vaman, Khadilkar;
Shabir, Iram;
Khadgawat, Rajesh;
Deenadayal, Mamata;
Chaitanya a, Datar;
Dada, Rima;
Sharma, Yogendra;
anand, anuranjan;
Thangaraj, Kumarasamy

Publication type:

Article

A Search for Disorders of Sex Development among Infertile Men.

Published in:

Sexual Development, 2018, v. 12, n. 6, p. 275, doi. 10.1159/000493877

By:

Yabiku, Rafael S.;
Guaragna, Mara S.;
de Sousa, Lizandra M.;
Fabbri-Scallet, Helena;
Mazzola, Taís N.;
Piveta, Cristiane S.C.;
de Souza, Marcela L.;
Guerra-Júnior, Gil;
de Mello, Maricilda P.;
Maciel-Guerra, andréa T.

Publication type:

Article

A Homozygous Missense Mutation in FANCA Gene in a 46,XY Female with Gonadal Dysgenesis.

Published in:

Sexual Development, 2018, v. 12, n. 5, p. 239, doi. 10.1159/000491407

By:

Mazen, Inas;
McElreavey, Kenneth;
Eid, Maha M.;
Bashamboo, anu;
Kamah, Ghada

Publication type:

Article

A Case of Two Sisters Suffering from 46,XY Gonadal Dysgenesis and Carrying a Mutation of a Novel Candidate Sex-Determining Gene STARD8 on the X Chromosome.

Published in:

Sexual Development, 2018, v. 12, n. 4, p. 191, doi. 10.1159/000489692

By:

Ilaslan, Erkut;
Calvel, Pierre;
Nowak, Dominika;
Szarras-Czapnik, Maria;
Slowikowska-Hilczer, Jolanta;
Spik, anna;
Sararols, Pauline;
Nef, Serge;
Jaruzelska, Jadwiga;
Kusz-Zamelczyk, Kamila

Publication type:

Article

The Mosaicism Ratio of 45,X May Explain the Phenotype in a Case of Mixed Gonadal Dysgenesis.

Published in:

Sexual Development, 2018, v. 12, n. 4, p. 175, doi. 10.1159/000489451

By:

Hatano, Megumi;
Fukuzawa, Ryuji;
Hasegawa, Yukihiro

Publication type:

Article

Importance of Serum Testicular Protein Hormone Measurement in the Assessment of Disorders of Sex Development.

Published in:

Sexual Development, 2018, v. 12, n. 1-3, p. 30, doi. 10.1159/000479572

By:

Freire, Analía V.;
Grinspon, Romina P.;
Rey, Rodolfo A.

Publication type:

Article

<bold><italic>WT1</italic></bold> Gene Mutation, p.R462W, in a 46,XY DSD Patient from Egypt with Gonadoblastoma and Review of the Literature.

Published in:

Sexual Development, 2017, v. 11, n. 5/6, p. 280, doi. 10.1159/000485394

By:

Mazen, Inas;
Hassan, Heba;
Kamel, Alaa;
Mekkawy, Mona;
McElreavey, Ken;
Essawi, Mona

Publication type:

Article