Results 1 to 10 of about 5,397,667 (244)

Diagnosis and Management of Adrenal Crisis in 46XX Congenital Adrenal Hyperplasia Infant

Folia Medica Indonesiana, 2022
Highlight: • The diagnosis and therapy of Congenital Adrenal Hyperplasia (CAH) children with Adrenal crisis (AC) case report. • Adrenal crisis (AC) is a life-threatening emergency that contributes to the high death rate of children with adrenal ...
Nur Rochmah, Muhammad Faizi, Neurinda Permata Kusumastuti, Leonardo Ferryanto Mak Samadhi, Wika Yuli Deakandi   +4 more
doaj   +1 more source

Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in France

Endocrine Connections, 2023
Objectives: To examine the changes in diagnostic practices and clinical management of patients with 5α-reductase type 2 (SRD5A2) or 17β-hydroxysteroid dehydrogenase type 3 (HSD17B3) deficiency since molecular diagnoses became available.
Estelle Bonnet, Mathias Winter, Delphine Mallet, Ingrid Plotton, Claire Bouvattier, Maryse Cartigny, Laetiti Martinerie, Michel Polak, Anne Bachelot, Frédéric Huet, Sabine Baron, Muriel Houang, Sylvie Soskin, Anne Lienhardt, Jérôme Bertherat, Cyril Amouroux, Aurore Bouty, Lise Duranteau, Rémi Besson, Alaa El Ghoneimi, Dinane Samara-Boustani, François Becmeur, Nicolas Kalfa, Françoise Paris, François Medjkane, Aude Brac de la Perrière, Patricia Bretones, Hervé Lejeune, Marc Nicolino, Pierre Mouriquand, Daniela-Brindusa Gorduza, Claire-Lise Gay   +31 more
doaj   +1 more source

COMPARISON OF SINGLE DOSE AND MULTI-DOSE hCG STIMULATION TESTS

İstanbul Tıp Fakültesi Dergisi, 2022
Objective: The human chorionic gonadotropin (hCG) stimulation test is widely used to assess testicular steroidogenesis. This test evaluates Leydig cell function and helps to evaluate testosterone synthesis in testicular enzyme defects, hypogonadism, 46 ...
Aslı Derya Kardelen Al, Esin Karakılıç Özturan, Leyla Asgarova, Ayşe Pınar Öztürk, Melek Yıldız, Şükran Poyrazoğlu, Firdevs Baş, Fatma Feyza Darendeliler   +7 more
doaj   +1 more source

A rare case of male sex reversal syndrome (46, XX) with negative SRY gene: a disorder of sexual differentiation (DSD)

African Journal of Urology, 2021
Background Male sex reversal syndrome is a rare genetic cause of male infertility with an overall incidence of 1/20,000–1/100,000 males. There is mismatching between the genetic make-up and the apparent clinical features.
Mohamed Ahmed Abd El Salam, Noha Hassan Ibrahim, Nehad Nabil Eskarous   +2 more
doaj   +1 more source

Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD

JCRPE, 2022
INTRODUCTION: Objective: Androgen insensivity syndrome (AIS) and 5α-reductase deficiency (5α-RD) present with indistinguishable phenotypes among the 46,XY disorders of sexual development (DSD) that usually necessitate molecular analyses for the ...
Neşe Akcan, Oya Uyguner, Firdevs Baş, Umut Altunoğlu, Güven Toksoy, Birsen Karaman, Şahin Avcı, Zehra Yavaş Abalı, Şükran Poyrazoğlu, Agharza Aghayev, Volkan Karaman, Rüveyde Bundak, Seher Başaran, Feyza Darendeliler   +13 more
doaj   +1 more source

A novel DEAH-box helicase 37 mutation associated with differences of sex development

Frontiers in Endocrinology, 2023
ObjectiveTo determine the genetic etiology of a family pedigree with two patients affected by differences of sex development (DSD).MethodsAssess the clinical characteristics of the patients and achieve exome sequencing results and in vitro functional ...
Yun Wan, Richeng Yu, Jianhua Luo, Ping Huang, Xingju Zheng, Liqun Sun, Kui Hu   +6 more
doaj   +1 more source

Exonic WT1 pathogenic variants in 46,XY DSD associated with gonadoblastoma

Endocrine Connections, 2021
Objective: The literature regarding gonadoblastoma risk in exonic Wilms’ tumor suppressor gene (WT1) pathogenic variants is sparse. The aim of this study is to describe the phenotypic and genotypic characteristics of Asian–Indian patients with WT1 ...
Sneha Arya, Sandeep Kumar, Anurag R Lila, Vijaya Sarathi, Saba Samad Memon, Rohit Barnabas, Hemangini Thakkar, Virendra A Patil, Nalini S Shah, Tushar R Bandgar   +9 more
doaj   +1 more source

A Novel Mutation Causing 17-β-Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Omani Child: First Case Report and Review of Literature

Oman Medical Journal, 2015
This is the first case report in Oman and the Gulf region of a 17-β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency with a novel mutation in the HSD17B3 gene that has not been previously described in the medical literature.
Aisha Al-Sinani, Waad-Allah S. Mula-Abed, Manal Al-Kindi, Ghariba Al-Kusaibi, Hanan Al-Azkawi, Nahid Nahavandi   +5 more
doaj   +1 more source

A 46,XX karyotype in men with infertility: Two new cases and review of the literature

Journal of Human Reproductive Sciences, 2022
46,XX male sex reversal syndrome is a rare genetic cause of male infertility. We report on two new cases of this syndrome in men presenting with hypogonadism and infertility. Cytogenetic and molecular analysis was performed in both patients. An extensive
Elisavet Kouvidi, Hara Tsimela, Leandros Lazaros, Kalliopi N Manola, Sophia Zachaki, Ruxandra Dobrescu, Konstantinos Sfakianoudis, Theodora Tsoni, Christina Katsidi, Haralambia Tsarouha, Emmanuel Kanavakis, Ariadni Mavrou   +11 more
doaj   +1 more source

Growth Pattern in Chinese Children With 5α-Reductase Type 2 Deficiency: A Retrospective Multicenter Study

Frontiers in Pharmacology, 2019
Background5α-reductase type 2 deficiency (5αRD) is an autosomal recessive hereditary disease of the group of 46, XY disorders of sex development (DSD).ObjectiveTo study the growth pattern in Chinese pediatric patients with 5αRD.SubjectsData were obtained
Xiu Zhao, Xiu Zhao, Yanning Song, Shaoke Chen, Xiumin Wang, Feihong Luo, Yu Yang, Linqi Chen, Ruimin Chen, Hui Chen, Zhe Su, Di Wu, Chunxiu Gong   +12 more
doaj   +1 more source