145 results match your criteria: "Kallmann Syndrome and Idiopathic Hypogonadotropic Hypogonadism"

Prevalence of pathogenic variants and digenic disease in patients diagnosed with normosmic hypogonadotropic hypogonadism/Kallmann Syndrome.

Mol Cell Endocrinol

August 2024

Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia at Augusta University, Augusta, GA, USA; Department of Neuroscience and Regenerative Medicine, Medical College of Georgia at Augusta University, Augusta, GA, USA; Department of Physiology, Medical College of Georgia at Augusta University, Augusta, GA, USA.

Article Synopsis
  • Hypogonadotropic hypogonadism (HH) is a condition causing absence of puberty and infertility due to impaired hormone action, with genetic factors involved in about 40-50% of cases.
  • A study involving 158 patients used exome sequencing to investigate the frequency of pathogenic genetic variants, finding a prevalence of 19% for monogenic variants and only 1.2% for digenic variants.
  • The results suggest that the occurrence of these pathogenic variants in nHH/KS is lower than previously reported, providing a more accurate estimation by excluding variants of uncertain significance (VUS).
View Article and Find Full Text PDF

Contributions of Common Genetic Variants to Constitutional Delay of Puberty and Idiopathic Hypogonadotropic Hypogonadism.

J Clin Endocrinol Metab

December 2024

Departments of Medicine (M.F.L., S.B.S.), Pediatrics (J.N.H., Y.-M.C.), and Genetics (J.N.H.), Harvard Medical School, Boston, MA 02115, USA.

Context: Constitutional delay of puberty (CDP) is highly heritable, but the genetic basis for CDP is largely unknown. Idiopathic hypogonadotropic hypogonadism (IHH) can be caused by rare genetic variants, but in about half of cases, no rare-variant cause is found.

Objective: To determine whether common genetic variants that influence pubertal timing contribute to CDP and IHH.

View Article and Find Full Text PDF

Clinical and molecular features of 40 Chinese patients with idiopathic hypogonadotropic hypogonadism.

Transl Androl Urol

September 2023

Institute of Laboratory Medicine, Nanjing Jinling Hospital, Affiliated Hospital of Medicine School, Nanjing University, Nanjing, China.

Article Synopsis
View Article and Find Full Text PDF

Mutation spectrum of Kallmann syndrome: identification of five novel mutations across ANOS1 and FGFR1.

Reprod Biol Endocrinol

March 2023

Department of Clinical Genetics, Shengjing Hospital of China Medical University, Shenyang, 110004, Liaoning, China.

Article Synopsis
View Article and Find Full Text PDF

Research on the variants of FGFR1 and CEP290 genes in idiopathic hypogonadotropin hypogonadism.

Yi Chuan

October 2022

Department of Endocrinology and Metabolism, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Institute of Endocrinology, Shandong Academy of Clinical Medicine, Shandong Provincial Key Laboratory of Endocrinology and Lipid Metabolism, Jinan 2500212, China.

Idiopathic hypogonadotropic hypogonadism (IHH) is a rare endocrine disease characterized by gonadal dysplasia. According to whether the sense of smell is affected, this disorder is classified into Kallmann syndrome (KS) and normosmic isolated hypogonadotropic hypogonadism (nIHH). In this study, we reported a case of nIHH patient and explored the pathogenic mechanism of FGFR1 in nIHH.

View Article and Find Full Text PDF

Treatment of congenital hypogonadotropic hypogonadism in male patients.

Ann Pediatr Endocrinol Metab

September 2022

Department of Pediatrics, Ajou University School of Medicine, Ajou University Hospital, Suwon, Korea.

Article Synopsis
View Article and Find Full Text PDF

The great migration: How glial cells could regulate GnRH neuron development and shape adult reproductive life.

J Chem Neuroanat

November 2022

Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland. Electronic address:

In mammals, reproductive function is under the control of hypothalamic neurons named Gonadotropin-Releasing Hormone (GnRH) neurons. These neurons migrate from the olfactory placode to the brain, during embryonic development. For the past 40 years, these neurons have been considered an example of tangential migration, i.

View Article and Find Full Text PDF

Introduction: Idiopathic hypogonadotropic hypogonadism (IHH) is a rare reproductive disorder resulting from gonadotropin-releasing hormone (GnRH) deficiency. However, in only approximately half of patients with IHH is it possible to identify a likely molecular diagnosis. Mice lacking Slit2 have a reduced number or altered patterning of GnRH neurons in the brain.

View Article and Find Full Text PDF

Idiopathic hypogonadotropic hypogonadism (IHH) comprises a group of rare genetic disorders characterized by pubertal failure caused by gonadotropin-releasing hormone (GnRH) deficiency. Genetic factors involved in semaphorin/plexin signaling have been identified in patients with IHH. PlexinB1, a member of the plexin family receptors, serves as the receptor for semaphorin 4D (Sema4D).

View Article and Find Full Text PDF

Clinical, hormonal, and genetic characteristics of 25 Chinese patients with idiopathic hypogonadotropic hypogonadism.

BMC Endocr Disord

January 2022

Department of Endocrinology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, 200062, People's Republic of China.

Article Synopsis
View Article and Find Full Text PDF

Analysis of PLXNA1, NRP1, and NRP2 variants in a cohort of patients with isolated hypogonadotropic hypogonadism.

Mol Genet Genomic Med

November 2021

Department of Clinical Laboratory, The Affiliated Zhuzhou Hospital Xiangya Medical College, Central South University, Zhuzhou, Hunan, China.

Article Synopsis
View Article and Find Full Text PDF

A novel heterozygous mutation of CHD7 gene in a Chinese patient with Kallmann syndrome: a case report.

BMC Endocr Disord

September 2021

Department of Endocrinology and Metabolism, First Affiliated Hospital, School of Medicine, Zhejiang University, No.79, Qing-Chun Road, Zhejiang, 310003, Hangzhou, China.

Article Synopsis
View Article and Find Full Text PDF

Kallmann syndrome (KS) is a rare genetic disorder that is characterized by idiopathic hypogonadotropic hypogonadism associated with anosmia. Genetic variants in ANOS1 gene are the most common mutations associated with X-linked recessive form of KS. Canonical ± 1 or 2 splice site variants in ANOS1 have been described to be responsible for KS.

View Article and Find Full Text PDF

Kallmann Syndrome Due to Heterozygous Mutation in Coexisting With Waardenburg Syndrome Type II: Case Report and Review of Literature.

Front Endocrinol (Lausanne)

May 2021

Liaoning Provincial Key Laboratory of Endocrine Diseases, Department of Endocrinology and Metabolism, Institute of Endocrinology, The First Hospital, China Medical University, Shenyang, China.

Article Synopsis
View Article and Find Full Text PDF
Article Synopsis
  • Idiopathic hypogonadotropic hypogonadism (IHH) leads to absent puberty and infertility due to a lack of gonadotropin-releasing hormone (GnRH), and can be associated with conditions like Kallmann syndrome.* -
  • Researchers identified ten rare variants in the genes SEMA3F and PLXNA3 among IHH patients, suggesting these genetic changes may disrupt signaling that is crucial for the development and function of GnRH and olfactory systems.* -
  • The study concluded that signaling from Semaphorin-3F through receptors PLXNA1-A3 is important for guiding GnRH neurons and olfactory nerve fibers, indicating that deficiencies in this signaling could be a factor in the development of I
View Article and Find Full Text PDF

Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.

Genet Med

April 2021

Harvard Reproductive Sciences Center, The Reproductive Endocrine Unit and The Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.

Purpose: SOX10 variants previously implicated in Waardenburg syndrome (WS) have now been linked to Kallmann syndrome (KS), the anosmic form of idiopathic hypogonadotropic hypogonadism (IHH). We investigated whether SOX10-associated WS and IHH represent elements of a phenotypic continuum within a unifying disorder or if they represent phenotypically distinct allelic disorders.

Methods: Exome sequencing from 1,309 IHH subjects (KS: 632; normosmic idiopathic hypogonadotropic hypogonadism [nIIHH]: 677) were reviewed for SOX10 rare sequence variants (RSVs).

View Article and Find Full Text PDF