Results 31 to 40 of about 2,707 (125)

Boosting Male Fertility: The Impact of Gonadotropin Therapy on Hypogonadotropic Hypogonadism—A Systematic Review and Meta‐Analysis

Andrology, Volume 14, Issue 7, Page 1971-1987, October 2026.
ABSTRACT Background Male hypogonadotropic hypogonadism typically presents with azoospermia and is one of the few causes of infertility amenable to a medical intervention. Gonadotropin therapy offers a chance to restore spermatogenesis and fertility in these individuals.
Manou Huijben, Anne Prinsen, Laetitia de Kort, Jetske van Breda   +3 more
wiley   +1 more source

The Spectrum of Congenital Hypogonadotropic Hypogonadism: A 30‐Year Experience at a Tertiary Paediatric Centre

Clinical Endocrinology, Volume 105, Issue 4, Page 464-473, October 2026.
ABSTRACT Congenital hypogonadotropic hypogonadism (CHH) is a rare group of disorders of gonadotropin deficiency, either isolated or as a part of multiple pituitary hormone deficiencies (MPHD). We aimed to describe the spectrum of presentation, diagnosis, and management practices of CHH spanning 30 years at an Australian tertiary paediatric centre. This
Minha Kook, Richard G. McGee, Geoffrey Ambler, Yoon Hi Cho   +3 more
wiley   +1 more source

Genetic landscape of a neonatal hypogonadotropic hypogonadism series: Novel variants and phenotypic spectrum

Journal of Neuroendocrinology, Volume 38, Issue 10, October 2026.
Abstract To describe clinical presentation and genetic findings in a cohort of infants with congenital hypogonadotropic hypogonadism (CHH) diagnosed before 2 years of age. From a large cohort of patients who underwent next‐generation sequencing (NGS) for CHH between 2019 and 2025, we identified all patients tested at ≤2 years of age.
Karine Aouchiche, Laure Van Wormhoudt, Kevin Perge, Joanne Dornberger, Cindy Colson, Marine Delagrange, Clara Leroy, Jennifer Ledmazel, Vanessa Menut, Jessica Benarrous Jaillet, Djamel Bendifallah, Mohamad Hage Chehade, Christelle Dib, Anne Barlier, Thierry Brue, Rachel Reynaud, Alexandru Saveanu   +16 more
wiley   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1953-1972, September 2026.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Gait Alterations Due to DCC Gene Variants in Individuals with Congenital Mirror Movements

Movement Disorders Clinical Practice, Volume 13, Issue 9, Page 2154-2165, September 2026.
Abstract Background Congenital Mirror Movement Syndrome (CMMS) involves involuntary movements on one side of the body while voluntary movements are performed on the other side. They disrupt left–right coordination and can be caused by a pathogenic variant in the DCC gene.
Nok‐Yeung Law, Shanie Desrosiers, Sinthiya Sivanesan, Helga Tonkov, Frédéric Charron, Frédéric Bretzner, Myriam Srour, Dorothy Barthélemy   +7 more
wiley   +1 more source

A novel nonsense mutation of the KAL1 gene (p.Trp204*) in Kallmann syndrome

The Application of Clinical Genetics, 2014
Antonette Souto El Husny,1 Milene Raiol-Moraes,1 Milena Coelho Fernandes-Caldato,2,3 Ândrea Ribeiro-dos-Santos1 1Laboratory of Human and Medical Genetics, Federal University of Pará, 2João de Barros Barreto University Hospital ...
El Husny AS, Raiol-Moraes M, Fernandes-Caldato MC, Ribeiro-dos-Santos    +3 more
doaj  

Clinical and inheritance profiles of Kallmann syndrome in Jordan

Reproductive Health, 2004
Background Proper management of patients with Kallmann syndrome (KS) allows them to attain a normal reproductive health. The purpose of this study is to demonstrate the presentation modalities, phenotypes and the modes of inheritance among 32 patients ...
Shegem Nadima S, Jarrah Nadim S, Hamamy Hanan A, AbuJbara Mousa A, Ajlouni Kamel M   +4 more
doaj   +1 more source

Dental Management of a 9‐Year‐Old Child With Suspected CHARGE Syndrome: A Case Report and Brief Literature Review

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Early recognition of syndromic features by dental professionals can lead to timely diagnosis and intervention, especially when systemic anomalies have been overlooked. Preventive and individualized dental management, supported by behavioral guidance, can achieve long‐term stability even in medically complex patients, including those with ...
Nazanin Nasr, Ariana Golabbakhsh, Nayereh Ahmadi, Razie Jahadakbar, Nosrat Nourbakhsh   +4 more
wiley   +1 more source

Whole genome investigation of an atypical autism case identifies a novel ANOS1 mutation with subsequent diagnosis of Kallmann syndrome

Molecular Genetics and Metabolism Reports, 2020
We report an actionable secondary finding from whole-genome sequencing (WGS) of a 10-year-old boy with autism. WGS identified non-synonymous variants in several genes, including a nonsense mutation in the ANOS1 gene which is an X-linked cause of Kallmann
Paul A. Dawson, Soohyun Lee, Adam D. Ewing, Johannes B. Prins, Helen S. Heussler   +4 more
doaj   +1 more source

The Pathogenicity Analysis of a Hypogonadotropic Hypogonadism Patient With the Novel Variant in the Deep Intronic Region of the PROK2 Gene

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
We identified a deep intronic variant of PROK2 in one female patient with hypogonadotropic hypogonadism (HH) through whole‐genome sequencing (WGS). In vitro splicing assays and protein structure predictions indicated that this variant was likely pathogenic and might lead to this disease.
Jiali Chen, Yujin Ma, Liping Li, Huifang Peng, Hongwei Jiang   +4 more
wiley   +1 more source