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, CYP19A1, DUSP6, ESR1, FEZF1, FGF17, FGF8, FGFR1, GNRH1, GNRHR, HS6ST1, IL17RD, KAL1, KISS1, KISS1R, LEP, LEPR, LHB, LHCGR, NR0B1, NR5A1, NSMF, POLR3B, PROK2, PROKR2, PROP1, SEMA3A, SEMA3E, SOX10, SPRY4, TAC3, TACR3, WDR11
  • 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
  • Deletion/Duplication Analysis

Ordering

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

Billing

81404x2, 81406x2, 81407x1, 81479x1
Yes
Yes
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References

  1. Balasubramanian R, Crowley WF Jr. Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. 2007 May 23 [Updated 2017 Mar 2]. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993
  2. Brioude et al., (2010) Eur J Endocrinol 162:835-851 (PMID: 20207726)
  3. Kim et al., (2008) Am J Hum Genet 83(4):511-519 (PMID: 18834967)
  4. Dubern et al., (2012) Biochimie 94 (10): 2111-2115 (PMID: 22627381)
  5. Faroqui et al., (2007) The New England Journal Of Medicine 356 (3):237-247 (PMID: 17229951)
  6. Arnhold et al., (2009) Horm. Res. 71: 75-82 (PMID: 19129711)
  7. Raivio et al., (2007) N Engl J Med 357(9):863-873 (PMID: 17761590)
  8. Silveira et al., (2010) Mol Cell Endocrinol 324(1-2):30-38 (PMID: 20188792)
  9. Luo et al. (2015) Gynecol Endocrinol 31(7): 516-521 (PMID:26036718)
  10. Leschek et al., (2001) J. Pediat. 138: 949-951 (PMID: 11391350)
  11. Quaynor et al., (2011) Fertil Steril 96(6): 1424-1430 (PMID: 22035731)
  12. Bianco & Kaiser, (2009) Nat Rev Endocrinol 5(10):569-576 (PMID: 19707180)