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Updated: Aug 24, 2025
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Reproductive Phenotypes and Genotypes in Men With IHH
Andrew A Dwyer1,2, Maria I Stamou2,3, Ella Anghel4
1William F. Connell School of Nursing, Boston College, Chestnut Hill, Massachusetts 02467, USA.
The Journal of Clinical Endocrinology and Metabolism
|October 21, 2022
Summary
Genotypic severity in isolated hypogonadotropic hypogonadism (IHH) correlates with pubertal and neuroendocrine phenotypes. ANOS1 variants predict severe reproductive outcomes, while other gene variants show varied effects.
Area of Science:
- Endocrinology
- Genetics
- Reproductive Medicine
Background:
- Isolated hypogonadotropic hypogonadism (IHH) presents diverse clinical and genetic profiles.
- Understanding genotype-phenotype correlations is crucial for managing IHH.
Purpose of the Study:
- To correlate genotypic severity with pubertal and neuroendocrine phenotypes in men with IHH.
- To identify genetic predictors of reproductive outcomes in IHH.
Main Methods:
- Retrospective study (1980-2020) of 242 men with IHH.
- Assessed olfaction, pubertal development, luteinizing hormone (LH) secretion, and genetic variants via exome sequencing (ES).
- Analyzed 62 IHH-associated genes, focusing on protein-truncating variants (PTVs).
Main Results:
- Absent puberty correlated with lower gonadotropin levels and undetectable LH.
- Partial puberty predicted pulsatile LH secretion (OR: 10.8).
- 18% of men had PTVs in IHH genes; ANOS1 PTVs were linked to severe phenotypes and absent puberty.
Conclusions:
- Partial puberty and LH ≥ 2.10 IU/L indicate pulsatile LH secretion.
- ANOS1 PTVs are associated with severe reproductive phenotypes in IHH.
- Neuroendocrine plasticity of the HPG axis is evident in IHH, despite genetic variations.
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