Patient: Sarah, a 20-year-old woman, presented with delayed puberty, lack of menstruation, and undeveloped breasts.
Diagnosis: Kallmann syndrome (KS) confirmed by hormonal tests revealing low LH, FSH, and sex hormones.
Investigation: Genetic testing identified a mutation in the KISS1 gene, known to affect GnRH function. However, GnRH deficiency persisted, suggesting another contributing factor.
- Brain imaging revealed reduced hypothalamic GHRH activity.
- GHRH secretion tests showed blunted response compared to healthy controls.
Hypothesis: GHRH deficiency, alongside the known KISS1 mutation, might synergistically contribute to Sarah’s severe GnRH deficiency and KS symptoms.
- Standard hormone replacement therapy with GnRH analogs to stimulate gonadal function and induce puberty.
- Investigative trial of GHRH replacement therapy (experimental in KS) alongside standard treatment.
- Regular hormonal profiles to assess response to treatment.
- Evaluation of puberty development and reproductive function.
- Standard therapy alone might partially improve Sarah’s symptoms.
- Combined GHRH and GnRH therapy could potentially boost GnRH levels and lead to more complete pubertal development and improved fertility.
This case study highlights the potential role of GHRH deficiency in KS and its complex interplay with other factors like KISS1 mutations. Exploring GHRH replacement therapy, while still in early stages, could open new avenues for treating KS and improving patient outcomes.