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Results for
""Disorder of Sex Development, 46,XY""[mesh_terms]

16 Results

Searching titles within these results

Oligogenic Causes of Human Differences of Sex Development: Facing the Challenge of Genetic Complexity.

Chrysanthi Kouri, Grit Sommer, Christa E Flück

Hormone research in paediatrics 2023;96(2):169-179

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Rare Types of Congenital Adrenal Hyperplasias Other Than 21-hydroxylase Deficiency.

Semra Çetinkaya, Mehmet İsakoca, Şenay Erdeve

Journal of clinical research in pediatric endocrinology 2025;17(Suppl 1):23-32

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46, XY disorders of sex development combined with aceruloplasminaemia: a case report and review of the literature.

Yanju Li, Mei Zhao, Lan Wang, Yi Huang, Yang Liu, Feiqing Wang

Orphanet journal of rare diseases 2025;20(1):124

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Clinical and molecular spectrum of 46,XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature.

Lele Li, Chang Su, Lijun Fan, Fenqi Gao, Xuejun Liang, Chunxiu Gong

Orphanet journal of rare diseases 2021;15(1):188

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Consanguinity and disorders of sex development.

Anu Bashamboo, Ken McElreavey

Human heredity 2015;77(1-4):108-17

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Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred.

Marta Ciaccio, Mariana Costanzo, Gabriela Guercio, Valeria De Dona, Roxana Marino, Pablo C Ramirez, Jessica Galeano, Diana Monica Warman, Esperanza Berensztein, Nora Saraco, Maria Sonia Baquedano, Eduardo Chaler, Mercedes Maceiras, Juan Manuel Lazzatti, Marco A Rivarola, Alicia Belgorosky

Hormone research in paediatrics 2013;78(2):119-26

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Genetic defects in pregnenolone synthesis.

Noriyuki Katsumata

Pediatric endocrinology reviews : PER 2013;10 Suppl 1():98-109

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Novel compound heterozygous POR variants in a neonate with Antley-Bixler syndrome and 46,XY DSD: a case report and literature review.

Wenting Zhang, Junfeng Zeng, Yanjin Li, Cailian Xie, Zhihao Sun, Guizhen Lyu, Tizhen Yan, Xiaoling Huang

Frontiers in endocrinology 2026;17():1896956

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Clinical spectrum of human STAR variants and their genotype-phenotype correlation.

Emre Murat Altinkilic, Philipp Augsburger, Amit V Pandey, Christa E Flück

The Journal of endocrinology 2024;262(3):

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The Molecular Basis of 5α-Reductase Type 2 Deficiency.

Rafael L Batista, Berenice B Mendonca

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2022;16(2-3):171-183

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Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development.

Jocelyn A van den Bergen, Gorjana Robevska, Stefanie Eggers, Stefan Riedl, Sonia R Grover, Philip B Bergman, Chris Kimber, Ashish Jiwane, Sophy Khan, Csilla Krausz, Jamal Raza, Irum Atta, Susan R Davis, Makato Ono, Vincent Harley, Sultana M H Faradz, Andrew H Sinclair, Katie L Ayers

Molecular genetics & genomic medicine 2021;8(3):e1095

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Long-term follow-up in a Chinese child with congenital lipoid adrenal hyperplasia due to a StAR gene mutation.

Xiu Zhao, Zhe Su, Xia Liu, Jianming Song, Yungen Gan, Pengqiang Wen, Shoulin Li, Li Wang, Lili Pan

BMC endocrine disorders 2019;18(1):78

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A novel hemizygous mutation of MAMLD1 in a patient with 46,XY complete gonadal dysgenesis.

Inge-Lore Ruiz-Arana, Angela Hübner, Cigdem Cetingdag, Heiko Krude, Annette Grüters, Maki Fukami, Heike Biebermann, Birgit Köhler

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2016;9(2):80-5

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MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency.

Tomonobu Hasegawa, Hirohito Shima, Mie Hayashi, Takashi Tachibana, Makoto Oshiro, Naoko Amano, Tomohiro Ishii, Hidenori Haruna, Maki Igarashi, Masafumi Kon, Ryuji Fukuzawa, Yukichi Tanaka, Maki Fukami, Satoshi Narumi

PloS one 2019;13(11):e0206184

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Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex development.

Sally Tantawy, Inas Mazen, Hala Soliman, Ghada Anwar, Abeer Atef, Mona El-Gammal, Ahmed El-Kotoury, Mona Mekkawy, Ahmad Torky, Agnes Rudolf, Pamela Schrumpf, Annette Grüters, Heiko Krude, Marie-Charlotte Dumargne, Rebekka Astudillo, Anu Bashamboo, Heike Biebermann, Birgit Köhler

European journal of endocrinology 2014;170(5):759-67

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Results: 1 – 15 / 16

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Results for ""Disorder of Sex Development, 46,XY""[mesh_terms]

Oligogenic Causes of Human Differences of Sex Development: Facing the Challenge of Genetic Complexity.

Rare Types of Congenital Adrenal Hyperplasias Other Than 21-hydroxylase Deficiency.

46, XY disorders of sex development combined with aceruloplasminaemia: a case report and review of the literature.

Clinical and molecular spectrum of 46,XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature.

Consanguinity and disorders of sex development.

Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred.

Genetic defects in pregnenolone synthesis.

Novel compound heterozygous POR variants in a neonate with Antley-Bixler syndrome and 46,XY DSD: a case report and literature review.

Clinical spectrum of human STAR variants and their genotype-phenotype correlation.

The Molecular Basis of 5α-Reductase Type 2 Deficiency.

Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development.

Long-term follow-up in a Chinese child with congenital lipoid adrenal hyperplasia due to a StAR gene mutation.

A novel hemizygous mutation of MAMLD1 in a patient with 46,XY complete gonadal dysgenesis.

MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency.

Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex development.

Results for
""Disorder of Sex Development, 46,XY""[mesh_terms]