Male hypogonadism is characterized by impaired testicular function, which can affect spermatogenesis and/or testosterone synthesis. Male hypogonadism that occur secondary to hypothalamic-pituitary dysfunction is known as hypogonadotropic hypogonadism (HH). In HH, secretion of gonadotropin releasing hormone (GnRh) is absent or inadequate. HH can be congenital or acquired. Congenital HH is divided in two main clinical phenotypes depending on the presence of an intact sense of smell: anosmic HH (Kallman syndrome) and congenital normosmic isolated hypogonadotropic hypogonadism (idiopathic HH or IHH). Approximately 60% of individuals with IHH have a defective sense of smell. Patients with Kallman syndrome (KS) may have additional phenotypic abnormalities including craniofacial defects, neurosensory deafness, digital anomalies, unilateral renal agenesis, and neurological defects, whereas normosmic IHH is usually not associated with any other malformations. Congenital IHH is a clinically and genetically heterogeneous disorder. Although sporadic cases are the most frequent, families with congenital IHH have been reported with X-linked, autosomal dominant or recessive inheritance. A growing list of genes has been implicated in the molecular pathogenesis of congenital IHH with the molecular basis of this condition being identified in ~ 30% of patient. These genes encode neuropeptides and protein involved in the development and migration of GnRH neurons, or in the control of different stages of GnRH function. Management of IHH may include administration of gonadal steroids to stimulate development of secondary sex characteristics followed by infertility treatment in adulthood. Early intervention can prevent low bone density and related complications, and also provides the opportunity for early family planning. Our Hypogonadotropic Hypogonadism Sequencing Panel includes full gene sequencing of CHD7, FSHB, KISS1, PROK2, FEZF1, GNRH1, KISSR1, PROKR2, FGF17, GNRHR, LHB TAC3, FGF8, IL17RD, NR0B1 (DAX1), TACR3, FGFR1 (KAL2), KAL1, NSMF (NELF), and WDR11. Please use our Endocrinology requisition form to order this testing.
Specimen Types Accepted
Any gene in the Hypogonadotropic Hypogonadism Sequencing Panel can also be ordered individually. Please contact us directly for cost and CPT code information.