Genetics

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Brief Report

Neonatal Hydrocolpos in Bardet-Biedl syndrome due to a novel frameshift indel in the BBS10 gene

Maria Helena Sircili; Rafael Loch Batista; Enoch Quindere de Sá Barreto; Solange Paiva Bueno; Anna Flávia Figueredo Benedetti; Flora Ladeira Craveiro; Raquel Matinez Ramos; Marcelo Praxedes Monteiro Filho; Sorahia Domenice; Berenice Bilharinho de Mendonça; Francisco Tibor Denes

https://doi.org/10.1159/000541137

Acknowledgement to Reviewers

https://doi.org/10.1159/000537983

Contents 2023 Vol. 17

https://doi.org/10.1159/000539966

Abstracts

Abstracts of the 11th I-DSD Symposium

https://doi.org/10.1159/000539511

Original Article

Environmental (and Random?) Sex Determination in Endangered and Invasive Phelsuma Geckos

Tomáš Peš; Barbora Straková; Lukáš Kratochvíl

https://doi.org/10.1159/000538906

Original Article

Mutations in STARD8 (DLC3) May Cause 46,XY Gonadal Dysgenesis

Dmytro Sirokha; Alexey Rayevsky; Olexandra Gorodna; Vitalii Kalynovskyi; Nataliya Zelinska; Oksana Samson; Krystyna Kwiatkowska; Serge Nef; Jadwiga Jaruzelska; Kamila Kusz-Zamelczyk; Ludmila Livshits

https://doi.org/10.1159/000537877

Brief Report

Rare Case of a Turner Syndrome Patient with Metastatic Dysgerminoma and No Y-Chromosomal Material with Pathogenic Variants Found in KIT and MTOR

Camilla Mains Balle; Christine Gaasdal Kassentoft; Jolinda Iris van Heusden; Michael Knudsen; Line Raaby; Claus Højbjerg Gravholt

https://doi.org/10.1159/000536236

Publisher's Note

https://doi.org/10.1159/000535640

Prelims

https://doi.org/10.1159/000534834

Brief Report

Two Novel Heterozygous Variants in RecA2 Domain of DHX37 Cause 46,XY Gonadal Dysgenesis and Testicular Regression Syndrome

Hao Yang; Xiuqi Ma; Hongjuan Tian; Jinna Yuan; Dehua Wu; Guanping Dong; Qian Liu; Junfen Fu

https://doi.org/10.1159/000534086

Original Article

Lessons Learned from 17 Years of Multidisciplinary Care for Differences of Sex Development Patients at a Single Indonesian Center

Sultana M.H. Faradz; Nurin Listyasari; Agustini Utari; Mahayu Dewi Ariani; Achmad Zulfa Juniarto; Ardy Santosa; Annastasia Ediati; Tuula K Rinne; Dineke Westra; Hedi Claahsen-van der Grinten; Frank H de Jong; Stenvert L.S. Drop; Katie Ayers; Andrew Sinclair

https://doi.org/10.1159/000534085

Editorial

Preface to the Special Issue on Ovarian Development

Dagmar Wilhelm; Joan Jorgensen

https://doi.org/10.1159/000532074

Original Article

The Effects of Pifithrin-µ on Spermatogonial Stem Cell Viability and Pluripotency

Sara Moghadasi; Ehsan Razeghian; Mehdi Shamsara; Farid Heidari

https://doi.org/10.1159/000531825

Review Article

The Aging Ovary and the Tales Learned Since Fetal Development

Jesus Lopez; Gabe Hohensee; Jing Liang; Meirav Sela; Joshua Johnson; Amanda N. Kallen

https://doi.org/10.1159/000532072

Short Report

Phenotypic Variation in 46,XX Disorders of Sex Development due to the Fourth Zinc Finger Domain Variant of WT1: A Familial Case Report

Shizuka Kirino; Analia Yogi; Eriko Adachi; Hisae Nakatani; Maki Gau; Ryosei Iemura; Haruki Yamano; Toru Kanamori; Takayasu Mori; Eisei Sohara; Shinichi Uchida; Kentaro Okamoto; Tomohiro Udagawa; Kei Takasawa; Tomohiro Morio; Kenichi Kashimada

https://doi.org/10.1159/000529720

Original Article

Presentation, Diagnosis, and Follow-Up Characteristics of 17α-Hydroxylase Deficiency Cases with Exon 1–6 Deletion (Founder Mutation) in the CYP17A1 Gene: 20-Year Single-Center Experience

Ismail Dundar; Aysehan Akinci; Emine Camtosun; Nurdan Ciftci; Leman Kayas

https://doi.org/10.1159/000529158

Original Article

Testicular Architecture of Men with 46,XX Testicular Disorders of Sex Development

Mirkka Hiort; Julia Rohayem; Regine Knaf; Sandra Laurentino; Agnethe Berglund; Claus H. Gravholt; Jörg Gromoll; Joachim Wistuba

https://doi.org/10.1159/000528955

Original Article

Targeted Next-Generation Sequencing for the Diagnosis of Gene Variants in Patients with 46,XY Disorder of Sex Development

Qiang Guo; Wen Wen Zhong; Hua Jian Lai; Lei Ye; Yi Fei Zhang; Jun Tao Li; Jian Guang Qiu; De Juan Wang

https://doi.org/10.1159/000528916

Original Article

Whole-Exome Sequencing Indicated New Candidate Genes Associated with Unilateral Cryptorchidism in Pigs

Arthur Nery da Silva; Adriana Mércia Guaratini Ibelli; Igor Ricardo Savoldi; Maurício Egídio Cantão; Eraldo Lourenso Zanella; Mariana Groke Marques; Marcos Vinicius Gualberto Barbosa da Silva; Jane Oliveira de Peixoto; Mônica Corrêa Ledur; Jader Silva Lopes; José Eduardo Vargas; Ricardo Zanella

https://doi.org/10.1159/000528360

Original Article

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

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

https://doi.org/10.1159/000527754

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