Results 21 to 30 of about 2,707 (125)

Kallmann syndrome and ichthyosis: a case of contiguous gene deletion syndrome

Endocrinology, Diabetes & Metabolism Case Reports, 2017
Kallmann syndrome is a genetically heterogeneous form of hypogonadotropic hypogonadism caused by gonadotropin-releasing hormone deficiency and characterized by anosmia or hyposmia due to hypoplasia of the olfactory bulbs; osteoporosis and metabolic ...
Irene Berges-Raso, Olga Giménez-Palop, Elisabeth Gabau, Ismael Capel, Assumpta Caixàs, Mercedes Rigla   +5 more
doaj   +1 more source

Kallmann Syndrome

Pediatric Neurology Briefs, 1993
The clinical, biological, and molecular genetic aspects of Kallmann syndrome are reported from the Institute of Molecular Genetics, Baylor College of Medicine, Houston, TX.
J Gordon Millichap
doaj   +1 more source

Kallmann syndrome in a 17-year-old boy

Кубанский научный медицинский вестник, 2020
Aim. To describe a rare hereditary disease — Kallmann syndrome — in a 17-year-old boy.Materials and methods. A retrospective analysis of anamnestic information, the course of the disease, laboratory and instrumental data and treatment of a 17-year-old ...
Alla V. Burlutskaya, Ol’ga G. Korobkina, Anastasiya V. Statova   +2 more
doaj   +1 more source

A case of idiopathic hypogonadotropic hypogonadism with dental and orofacial defects: A key to the perception of possible molecular etiology

Journal of Cleft Lip Palate and Craniofacial Anomalies, 2022
Isolated deficiency of gonadotropin-releasing hormone is a heterogeneous disorder with wide genetic and clinical overlap. It mainly presents as hypogonadotropic hypogonadism (HH).
Adity Bansal, Prashant Kumar Verma, Rahul Bhakat, Ashi Chug, Srinivas Gosla Reddy   +4 more
doaj   +1 more source

Kallmann syndrome: MRI findings

Indian Journal of Endocrinology and Metabolism, 2013
Kallmann syndrome (KS) is a disease clinically characterized by the association of hypogonadotrophic hypogonadism and anosmia or hyposmia. It is a neuronal migration disorder.
Houneida Zaghouani, Ines Slim, Neila Ben Zina, Najoua Mallat, Houda Tajouri, Chakib Kraiem   +5 more
doaj   +1 more source

Delayed Puberty Due to a WDR11 Truncation at Its N-Terminal Domain Leading to a Mild Form of Ciliopathy Presenting With Dissociated Central Hypogonadism: Case Report

Frontiers in Pediatrics, 2022
Pubertal delay in males is frequently due to constitutional delay of growth and puberty, but pathologic hypogonadism should be considered. After general illnesses and primary testicular failure are ruled out, the main differential diagnosis is central ...
Sebastián Castro, Franco G. Brunello, Franco G. Brunello, Gabriela Sansó, Gabriela Sansó, Paula Scaglia, Paula Scaglia, María Esnaola Azcoiti, María Esnaola Azcoiti, Agustín Izquierdo, Agustín Izquierdo, Florencia Villegas, Ignacio Bergadá, María Gabriela Ropelato, María Gabriela Ropelato, Marcelo A. Martí, Rodolfo A. Rey, Rodolfo A. Rey, Rodolfo A. Rey, Romina P. Grinspon   +19 more
doaj   +1 more source

Role of SoxE transcription factors in development and disease

Developmental Dynamics, EarlyView.
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley   +1 more source

Case report: A case of Culler-Jones syndrome caused by a novel mutation of GLI2 gene and literature review

Frontiers in Endocrinology, 2023
Culler-Jones syndrome is a rare clinical phenomenon with diverse manifestations and is prone to misdiagnosis. We report one patient who presented with a 10-year history of anosmia and a 1-year history of epididymal pain.
Yiwen Zhang, Bingzi Dong, Yu Xue, Yunyang Wang, Jing Yan, Lili Xu   +5 more
doaj   +1 more source

Goofy/123Cre lineage tracing differentiates olfactory and vomeronasal neurons from GnRH‐1 and terminal nerve neurons during neuronal migration and reveals additional olfactory placode‐derived cells in the brain

Developmental Dynamics, EarlyView.
Abstract The olfactory placode (OP) generates a broad array of chemosensory neurons in the nasal region, including olfactory sensory neurons, vomeronasal sensory neurons, neurons of the septal organ, and Grueneberg ganglion. During invagination, the OP also generates migratory neuronal populations, including gonadotropin‐releasing hormone‐1 (GnRH‐1 ...
Enrico Amato Jr., Mia V. Call, Noah M. LeFever, Mya Aviles‐Carlos, Nikki M. Dolphin, Paolo E. Forni   +5 more
wiley   +1 more source

Kallmann Syndrome and Depression: A Case Report

Kerala Journal of Psychiatry
Kallmann syndrome is a genetic condition that causes low testosterone levels and anosmia. It can also be linked to mood disorders such as depression. This case report describes an 18-year-old male with Kallmann syndrome who experienced low mood, fatigue,
Tanvi Mittal, Nishanth JH
doaj   +1 more source