Results 71 to 80 of about 279,200 (174)

A Very Rare Case Report of Septo Optic Dysplasia with Incidental Association of Kallman's Syndrome

, 2023
<p>Septo-optic dysplasia with Kallmann’s syndrome is a rare condition which includes, visual abnormalities/vision loss, hypogonadotropic hypogonadism, anosmia/hyposmia.
Ponugoti Spoorthi, PVS Abhishek, Adimulam Josthsna   +2 more
core   +1 more source

Unraveling Delayed Puberty: A Rare Case of Congenital Hypogonadotropic Hypogonadism Masked by Celiac Disease and Plummer–Vinson Syndrome

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder that results in delayed puberty and infertility due to impaired secretion of gonadotropin‐releasing hormone (GnRH). Here, we present a case of a 25‐year‐old male with a known history of Plummer–Vinson syndrome and celiac disease, who presented with the chief complaints of easy ...
Osama Ahmad, Uzma Akbar, Fatima Sajjad, Muhammad Abdullah Ali, Umama Alam, Zaryab Bacha, Jibran Ikram, Malik W. Z. Khan   +7 more
wiley   +1 more source

Mitochondrial Diseases: Molecular Pathogenesis and Therapeutic Advances

MedComm, Volume 6, Issue 9, September 2025.
Key pathogenic mechanisms—OXPHOS defects, heteroplasmy, impaired mtDNA repair, disrupted dynamics/mitophagy, and inflammatory signaling—drive multiorgan involvement in mitochondrial diseases. Targeted interventions include metabolic drugs (CoQ10, idebenone, EPI‐743), mitochondrial gene editing (DdCBE, mitoBEs, CyDENT/mitoTALEN/mtZFN), and mitochondrial
Jialun Mei, Peng Ding, Chuan Gao, Jian Zhou, Zhiwei Li, Changqing Zhang, Junjie Gao   +6 more
wiley   +1 more source

Alterations of Brain Structural and Functional Connectivity Networks and Its Correlations With Cognitive Function in Patients With Hypothalamic Syndrome Following Craniopharyngioma Resection

Brain and Behavior, Volume 15, Issue 8, August 2025.
After preprocessing the rs‐fMRI and DTI data, nodes of the functional connectivity network (FCN) and structural connectivity network (SCN) were defined based on the Automated Anatomical Labeling (AAL 90) atlas consisting of 90 regions. Subsequently, the FCN and SCN were constructed accordingly.
Shuang Li, Junya Ma, Zanyong Tong, Hongting Jiang, Lusheng Li, Yuting Zhang   +5 more
wiley   +1 more source

Endocrine Dysfunction in Children with Zika-Related Microcephaly Who Were Born during the 2015 Epidemic in the State of Pernambuco, Brazil

Viruses, 2020
Congenital viral infections and the occurrence of septo-optic dysplasia, which is a combination of optic nerve hypoplasia, abnormal formation of structures along the midline of the brain, and pituitary hypofunction, support the biological plausibility of
Andréia Veras Gonçalves, Demócrito de B. Miranda-Filho, Líbia Cristina Rocha Vilela, Regina Coeli Ferreira Ramos, Thalia V. B. de Araújo, Rômulo A. L. de Vasconcelos, Maria Angela Wanderley Rocha, Sophie Helena Eickmann, Marli Tenório Cordeiro, Liana O. Ventura, Ulisses Ramos Montarroyos, Alessandra Mertens Brainer, Maria Durce Costa Gomes, Paula Fabiana Sobral da Silva, Celina M. T. Martelli, Elizabeth B. Brickley, Ricardo A. A. Ximenes   +16 more
doaj   +1 more source

Clinical Presentation of Congenital Hypopituitarism: Lessons From a Large Academic Centre

Clinical Endocrinology, Volume 102, Issue 6, Page 649-655, June 2025.
ABSTRACT Objective Pituitary hormone deficiencies are associated with considerable morbidity, yet the variability of presentation and evolution of congenital hypopituitarism remains unexplored. This study investigated differences in presentation of congenital isolated pituitary hormone deficiency (cIPHD) versus congenital multiple pituitary hormone ...
Jennifer M. Ladd, Amy L. Pyle‐Eilola, Leena Mamilly, Monika Chaudhari, Rohan K. Henry   +4 more
wiley   +1 more source

Partially Empty Sella with Optic Disc Coloboma - Unique Association

Journal of Medical Sciences and Health
Congenital anomalies in individuals, more often than not involve multiple organs. We present the case of a 26-year-old female who presented with headache and sleep disturbances as primary complaints. She was found to have a partially empty sella
Saswati Sen, Snehalata Dash, Akash Sidana, Anjali Goel   +3 more
doaj   +1 more source

Prenatal ethanol exposure in mice phenocopies Cdon mutation by impeding Shh function in the etiology of optic nerve hypoplasia

Disease Models & Mechanisms, 2017
Septo-optic dysplasia (SOD) is a congenital disorder characterized by optic nerve, pituitary and midline brain malformations. The clinical presentation of SOD is highly variable with a poorly understood etiology.
Benjamin M. Kahn, Tanya S. Corman, Korah Lovelace, Mingi Hong, Robert S. Krauss, Douglas J. Epstein   +5 more
doaj   +1 more source

Septo-optic dysplasia complex: Clinical and radiological manifestations in Omani children

Oman Journal of Ophthalmology, 2013
Background: Septo-optic dysplasia (SOD), also known as de-Morsier′s syndrome, is a rare disorder characterized by any combination of optic nerve hypoplasia (ONH), pituitary gland hypoplasia, and midline abnormalities of the brain including absence of ...
Rana Al-Senawi, Bushra Al-Jabri, Sana Al-Zuhaibi, Faisal Al-Azri, Saif Al-Yarubi, Beena Harikrishna, Amna Al-Futaisi, Anuradha Ganesh   +7 more
doaj   +1 more source

The eye as a window to rare endocrine disorders

Indian Journal of Endocrinology and Metabolism, 2012
The human eye, as an organ, can offer critical clues to the diagnosis of various systemic illnesses. Ocular changes are common in various endocrine disorders such as diabetes mellitus and Graves′ disease.
Rupali Chopra, Ashish Chander, Jubbin J Jacob   +2 more
doaj   +1 more source