Hypogonadism Genetic Panel
Genetic causes of hypogonadism
What is this test?
Our Hypogonadism Genetic Panel screens over 80 genes involved in the hypothalamic-pituitary-gonadal axis and sex hormone pathways. This test identifies genetic causes of reduced gonadal function (hypogonadism) — from congenital hypogonadotropic hypogonadism and Kallmann syndrome to disorders of sex development. A molecular diagnosis can guide hormone replacement therapy, fertility treatments, and long-term health monitoring.
Key Benefits
Determining whether hypogonadism originates in the brain (hypothalamic/pituitary) or the gonads themselves fundamentally changes the treatment approach.
Congenital hypogonadotropic hypogonadism with anosmia (Kallmann syndrome) has multiple genetic causes. Identifying the gene guides treatment and predicts associated features.
Certain genetic forms of hypogonadism respond well to gonadotropin therapy, while others may require donor gametes. The genetic diagnosis informs this decision.
For patients with disorders of sex development, a genetic diagnosis provides clarity about the underlying biology and guides medical and psychosocial management.
How It Works
Your endocrinologist or reproductive specialist evaluates hormone levels and clinical features before ordering the panel.
A standard blood draw is all that is needed.
80+ hypogonadism-related genes are sequenced, covering hypothalamic, pituitary, gonadal, and steroidogenic pathway genes.
Variants are interpreted by molecular geneticists with expertise in reproductive endocrinology and DSD.
Report includes molecular diagnosis, implications for fertility, hormone therapy recommendations, and family counseling information.
Who should consider this test?
- Adolescents and adults with delayed or absent puberty
- Men with low testosterone and unexplained infertility
- Women with primary amenorrhea or premature ovarian insufficiency
- Individuals with anosmia (absent sense of smell) combined with reproductive issues
- Patients with disorders of sex development (DSD) or ambiguous genitalia
Conditions Screened
Accuracy & Clinical Evidence
>99% analytical sensitivity for SNVs and small indels in targeted coding regions
Over 50 genes have been implicated in congenital hypogonadotropic hypogonadism, with diagnostic yields of 40–50% in well-phenotyped patients. Identifying a CHD7 mutation in Kallmann syndrome patients triggers screening for CHARGE-associated features (heart defects, choanal atresia, hearing loss).
Scientific Detail
All coding exons and ±20 bp flanking intronic regions of 80+ genes are sequenced. The panel spans the hypothalamic-pituitary-gonadal axis: GnRH pathway genes (GNRHR, KISS1R, TAC3/TACR3), pituitary transcription factors (PROP1, POU1F1), gonadal determination genes (SRY, SOX9, NR5A1), and steroidogenic enzymes (CYP17A1, CYP19A1, HSD17B3).
For Healthcare Providers
This panel covers 80+ genes involved in GnRH neuron development/migration, pituitary gonadotrope function, gonadal development, and steroidogenesis. Sequencing on Illumina platform with >100x mean coverage. CNV analysis is included for key regions. Karyotype correlation is recommended when DSD is suspected.
Important Limitations
- Chromosomal causes of hypogonadism (47,XXY Klinefelter; 45,X Turner) require karyotype analysis, which is not performed by this NGS panel.
- Oligogenic inheritance is common in CHH — multiple contributing variants may be identified, complicating interpretation.
- Environmental and acquired causes of hypogonadism (e.g., pituitary tumors, medications) are not detected.
- Variants of uncertain significance may be reported, especially in genes with oligogenic inheritance patterns.
- Epigenetic regulation of puberty timing is not assessed.
Frequently Asked Questions
Test Details
Interested in this test?
Speak with our team to learn more about ordering this test or to get a consultation.
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