Hypogonadotropic Hypogonadism (HH)

Hypogonadotropic hypogonadism (HH) is defined as delayed or absent pubertal development due to impaired gonadotropin secretion. Individuals with idiopathic HH (IHH) usually present with incomplete or absent pubertal development. Over 90% of females with IHH present with primary amenorrhea. Males may have cryptorchidism, testicular atrophy, and microphallus. During childhood, individuals with IHH may have a eunuchoid body habitus (i.e., an arm span that exceeds height by > 5 cm). However, gonadotropin deficiency left untreated may ultimately lead to retarded bone maturation, osteopenia, and osteoporosis in adulthood. In the presence of a partial or total loss of smell (hyposmia or anosmia), IHH is referred to as Kallmann syndrome (KS). Approximately 60% of individuals with IHH have a defective sense of smell. Individuals with KS may have hearing loss, synkinesia, and/or cleft lip/palate. Up to 30% of males with KS also exhibit renal agenesis.

Tests Available

Forms and Documents

Test Details

CHD7, FGF8, FGFR1, GNRH1, GNRHR, KAL1, KISS1, KISS1R, NR0B1, NSMF (NELF), PROK2, PROKR2, TAC3, TACR3
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with HH
  • Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Next-Gen Sequencing
  • ExonArray CGH

Ordering

676
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81404x1, 81406x1, 81407x1, 81479x3
Yes
Yes
  • 255.2 Adrenogenital disorders, Adrenogenital syndromes,
  • 781.1 Disturbances of sensation of smell and taste Anosmia Parageusia Parosmia
  • 253.4 Other anterior pituitary disorders, Isolated or partial deficiency of an anterior pituitary hormone, other than growth hormone Prolactin deficiency
  • 257.2 Other testicular hypofunction, Defective biosynthesis of testicular androgen, Eunuchoidism: NOS hypogonadotropic Failure: Leydig's cell, adult seminiferous tubule, adult Testicular hypogonadism
* For price inquiries please email zebras@genedx.com

References

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