Case Report: Homozygous KISS1R Mutation and Pulsatile GnRH Therapy in Two Siblings

Rongwan Sun published a clinical case report on figshare in 2026. The report details two siblings with congenital hypogonadotropic hypogonadism caused by a homozygous KISS1R mutation. It describes the clinical presentation and the male patient's one-year treatment with pulsatile GnRH therapy, which resulted in significant clinical and pituitary morphological improvements.

Use Cases

• Studying genotype-phenotype correlations in congenital hypogonadotropic hypogonadism based on the described KISS1R mutation.
• Analyzing the efficacy of pulsatile GnRH therapy for restoring fertility based on the reported clinical outcomes.
• Investigating pituitary gland morphological changes in response to hormone therapy based on the MRI findings.

Strengths

• The report provides specific clinical measurements, including testicular volume increase from 0.9 to 5.6 mL and pituitary height increase from 3.5 to 4.5 mm.
• It includes a detailed genetic diagnosis, identifying a homozygous nonsense mutation (c.182C > A; p.Ser61Ter) in the KISS1R gene.
• The dataset is shared under a permissive CC-BY-4.0 license, allowing for reuse with attribution.

Limitations

• The dataset is a single PDF case report (210.8 KB), representing a very limited scope of two patients.
• Column-level documentation is absent; field semantics must be inferred after download.
• Row count is unknown, which may limit suitability assessment for statistical analysis.

Provenance

Source

figshare

Collection Method

Clinical case study and reporting.

Freshness

Last updated 2026-04-30 04:16:23; freshness should be verified.