LHCGR inactivating variants: single center experience and systematic review of phenotype-genotype of 46,XY and 46,XX patients
In summary, this study comprehensively characterizes LHCGR variants, revealing genotype-phenotype correlations and informing clinical management of LCH. In 46,XY LCH patients, pubertal LH inaction is uniform with variable severity of antenatal hCG inaction. Few mutant LHCGR have differential actions for LH and hCG.
Authors
- Virendra Patil (ORCID: https://orcid.org/0000-0002-2861-6267)
- Sirisha Kusuma Boddu (ORCID: https://orcid.org/0000-0003-4921-8062)
- Manjiri Karlekar (ORCID: https://orcid.org/0000-0001-7277-7052)
- Anurag Lila (ORCID: https://orcid.org/0000-0002-9623-4471)
- Tushar Bandgar (ORCID: https://orcid.org/0000-0002-6902-4639)
- Saba Samad Memon (ORCID: https://orcid.org/0000-0001-5199-6299)
- Vijaya Sarathi (ORCID: https://orcid.org/0000-0002-0243-0448)
- Nalini S. Shah (ORCID: https://orcid.org/0000-0002-2295-0475)
- Rohit Barnabas (ORCID: https://orcid.org/0000-0001-7612-506X)
- Samiksha Hegishte
- Swati Jadhav
- Sneha Arya
Institutions
- C. U. Shah University (IN)
- King Edward Memorial Hospital and Seth G.S. Medical College (IN)
- Rainbow Children's Hospital (IN)
- Institute of Medical Sciences (IN)
Publication Details
- Journal
- Endocrine Connections
- Published
- 2024-08-20
- DOI
- https://doi.org/10.1530/ec-24-0246
- Primary Topic
- Hypothalamic control of reproductive hormones
- Type
- article
- Field-Weighted Citation Impact
- 0.00