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

ANOS1, CHD7, CYP19A1, DUSP6, ESR1, FEZF1, FGF17, FGF8, FGFR1, FLRT3, FSHB, GNRH1, GNRHR, HS6ST1, IL17RD, KISS1, KISS1R, LEP, LEPR, LHB, LHCGR, NR0B1, NR5A1, NSMF, POLR3B, PROK2, PROKR2, PROP1, SEMA3A, SEMA3E, SOX10, SPRY4, TAC3, TACR3, WDR11, XRCC4
  • 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 variant(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies

Ordering

676
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81404x2, 81406x2, 81407x1, 81479x1
Yes
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

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)

Forms and Documents

Test Details

AAAS, AARS, AARS2, AASS, ABCA1, ABCA5, ABCA7, ABCB7, ABCC6, ABCC8, ABCD1, ABHD12, ABHD5, ACAT2, ACBD5, ACBD6, ACD, ACO2, ACOX1, ACOX2, ACP2, ACP5, ACTA1, ACTB, ADAR, ADCK3, ADCY5, ADCY6, ADD3, ADGRG1, ADK, ADPRHL2, ADRA2B, ADSL, AFF2, AFG3L2, AGA, AGRN, AGTPBP1, AHDC1, AHI1, AIFM1, AIMP1, AIMP2, AIP, AIPL1, AKT1, ALAD, ALDH18A1, ALDH3A2, ALDH5A1, ALDH6A1, ALDH7A1, ALG11, ALG6, ALK, ALS2, AMACR, AMPD2, ANG, ANGPTL6, ANK3, ANKLE2, ANKRD11, ANO10, ANO3, ANOS1, ANXA11, AP1S2, AP3B2, AP3D1, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APOA1, APOA1BP, APOB, APOPT1, APP, APTX, ARCN1, ARFGEF2, ARG1, ARHGAP31, ARID1B, ARL13B, ARL6, ARL6IP1, ARMC9, ARNT2, ARSA, ARSI, ARV1, ARX, ASL, ASNS, ASPA, ASPM, ASS1, ATAD3A, ATAD3B, ATCAY, ATF4, ATG5, ATL1, ATM, ATP13A2, ATP1A2, ATP1A3, ATP2B3, ATP2B4, ATP5A1, ATP5E, ATP6AP2, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, ATP7B, ATP8A2, ATPAF1, ATPAF2, ATRX, AUH, B3GALNT2, B3GALT6, B4GALNT1, B4GAT1, B9D1, BAZ1B, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCL11B, BCOR, BCS1L, BICD2, BMP15, BOLA3, BRAT1, BSCL2, BTD, C10orf2, C11ORF73, C12ORF65, C19orf12, C19ORF70, C21ORF2, C5orf42, CA8, CACNA1A, CACNA1B, CACNA1D, CACNA1G, CACNB4, CACNG2, CAMTA1, CAMTA2, CAPN1, CARS2, CASK, CASR, CAV1, CBS, CC2D1A, CC2D2A, CCDC141, CCDC82, CCDC88C, CCNF, CCR1, CCT5, CDC42, CDH15, CDH23, CDK5RAP2, CDK6, CDKL5, CECR1, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP164, CEP290, CEP41, CEP63, CEP78, CFL2, CHAMP1, CHAT, CHCHD10, CHD2, CHD7, CHL1, CHMP1A, CHMP2B, CHN1, CHRNA4, CHRNA7, CIB2, CISD2, CIT, CIZ1, CKAP2L, CLCN2, CLIC2, CLIP1, CLIP2, CLK2, CLMP, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CLRN1, CNTN4, CNTNAP1, COA3, COA5, COA7, COASY, COG2, COG4, COG5, COL12A1, COL13A1, COL18A1, COL25A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COLEC11, COQ2, COQ5, COQ7, COQ9, COX10, COX14, COX15, COX20, COX6B1, CP, CPS1, CPT1A, CPT1C, CRADD, CRAT, CRB1, CRBN, CREBBP, CRLF1, CRX, CSF1R, CSPP1, CSTB, CTBP1, CTC1, CTDP1, CTLA4, CTNNB1, CTNND2, CTSD, CTSF, CUL4B, CWF19L1, CYB5R3, CYC1, CYP26C1, CYP27A1, CYP2U1, CYP7B1, DAB1, DAG1, DAO, DARS, DARS2, DBT, DCAF17, DCC, DCTN1, DCX, DDB2, DDC, DDHD1, DDHD2, DDX3X, DEAF1, DFNB31, DHCR24, DHDDS, DHFR, DHH, DKC1, DKK1, DLAT, DLD, DLG3, DLGAP4, DLL4, DMXL2, DNA2, DNAJC12, DNAJC13, DNAJC19, DNAJC3, DNAJC5, DNAJC6, DNAL4, DNASE1L3, DNM1, DNM1L, DNM2, DNMT1, DOCK3, DOCK6, DOCK8, DPM1, DPYD, DPYS, DRD2, DSTYK, DUSP6, DYNC1H1, DYRK1A, DYSF, EARS2, EBF3, ECHS1, ECM1, EDC3, EDN3, EDNRB, EED, EEF2, EGR2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF4G1, ELF2, ELN, ELOVL4, ELOVL5, ELP2, EMC1, EML1, EMX2, ENG, ENPP1, ENTPD1, EOGT, EP300, EPB41L1, EPB41L4A, EPCAM, EPHA4, EPT1, ERAP1, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERLIN1, ERLIN2, ERMARD, ETHE1, EXOSC3, EXOSC8, EXOSC9, EXT1, EXT2, EZH2, FA2H, FAAH, FAN1, FAR1, FARS2, FAS, FASTKD2, FAT1, FAT2, FBXL4, FBXO31, FBXO7, FDXR, FEZF1, FGD4, FGF12, FGF14, FGF17, FGF8, FGFR1, FGFR2, FGFR3, FIG4, FITM2, FKRP, FKTN, FLNA, FLRT1, FLRT3, FLVCR1, FMN2, FOXG1, FOXI1, FOXP1, FOXP3, FOXRED1, FRMD4A, FRRS1L, FSHR, FTL, FUCA1 , FUS, FUZ, FXN, GABBR2, GABRA1, GABRA3, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAD1, GALC, GALT, GAMT, GAN, GATAD2B, GBA, GBA2, GBE1, GCDH, GCH1, GCK, GDF3, GDF6, GEMIN4, GEMIN5, GFAP, GFM1, GFM2, GIGYF2, GJA1, GJB1, GJB2, GJB6, GJC2, GLB1, GLE1, GLI2, GLRA1, GLRB, GLRX5, GLYCTK, GM2A, GMPPA, GMPPB, GNA11, GNAL, GNAO1, GNAQ, GNAS, GNB1, GNRH1, GNRHR, GOSR2, GPHN, GPI, GPR101, GPR88, GPR98, GRID2, GRIK2, GRIN1, GRIN2B, GRM1, GRN, GSS, GTF2I, GTF2IRD1, GUCY1A3, GUCY2D, GUF1, HACE1, HARS, HARS2, HCFC1, HCN1, HDAC8, HEPACAM, HERC1, HESX1, HEXA, HEXB, HFE, HGSNAT, HIBCH, HIC1, HK1, HLA-DPB1, HLCS, HMBS, HMGCS2, HNRNPA1, HNRNPA2B1, HNRNPH2, HPCA, HPDL, HPGD, HPRT1, HS6ST1, HSD17B10, HSD17B4, HSPD1, HSPG2, HTRA2, HYLS1, IARS, IBA57, IDH2, IDUA, IFIH1, IFRD1, IFT140, IFT172, IFT27, IKBKAP, IL10, IL12A, IL17RD, IL23R, IL6, IMPDH1, INPP5E, INPP5K, INS, INVS, IQCB1, IQSEC2, ISCA2, ISPD, ITM2B, ITPR1, JAM3, KANK1, KAT6A, KATNB1, KCNA1, KCNA2, KCNAB2, KCNB1, KCNB2, KCNC1, KCNC3, KCND3, KCNJ10, KCNJ11, KCNJ13, KCNJ18, KCNJ6, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD17, KCTD7, KDM5C, KDM6A, KIAA0196, KIAA0226, KIAA0556, KIAA0586, KIAA0753, KIAA1033, KIAA2022 (NEXMIF), KIDINS220, KIF11, KIF1A, KIF1C, KIF26B, KIF2A, KIF5A, KIF5C, KIF7, KIRREL3, KISS1, KISS1R, KIT, KLC2, KLC4, KLHL40, KLHL41, KLLN, KLRC4, KMT2A (MLL), KMT2B, KRAS, KY, L1CAM, L2HGDH, LAGE3, LAMA1, LAMA2, LAMB1, LAMB2, LARGE, LARS, LARS2, LCA5, LDLR, LETM1, LHX4, LIAS, LIMK1, LIMS2, LIPT1, LMBRD1, LMNB1, LMNB2, LMOD3, LRAT, LRPPRC, LRRK2, LRSAM1, LYRM7, LYST, LZTFL1, MAFB, MAG, MAN1B1, MAN2B1, MAPT, MARS, MARS2, MAST1, MAT1A, MATR3, MBD5, MCCC1, MCCC2, MCOLN1, MCPH1, MECP2, MECR, MED13L, MED17, MED23, MED25, MED27, MEF2C, MEFV, MEOX1, METTL23, MFF, MFN2, MFSD2A, MFSD8, MGME1, MICU1, MICU2, MKKS, MKS1, MLC1, MLH3, MLLT3, MMADHC, MME, MOCS1, MOCS2, MPDU1, MPP7, MPV17, MPZ, MR1, MRE11A, MRPS22, MSTO1, MTFMT, MTO1, MTOR, MTPAP, MTTP, MUT, MVK, MYCN, MYD88, MYH2, MYO5A, MYO7A, MYO9A, MYT1L, NAA10, NACC1, NADK2, NAGA, NAGLU, NAGPA, NALCN, NANS, NARS2, NAT8L, NDE1, NDRG1, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NECAP1, NEFH, NEFL, NEK1, NELFA, NEU1, NF1, NFU1, NGLY1, NHP2, NIPA1, NKAIN2, NKX2-1, NKX6-2, NME1, NMNAT1, NOD2, NOL3, NONO, NOP10, NOTCH1, NOTCH3, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NR4A2, NR5A1, NRAS, NRD1, NSD1, NSMF, NSUN2, NT5C2, NTN1, NTNG1, NUBPL, NUP107, NUP62, NUS1, OBFC1, OCLN, OFD1, OGDH, OPA1, OPA3, OPHN1, OPTN, OSGEP, OTC, OTUD4, OTUD6B, OTX2, PACRG, PAFAH1B1, PAFAH1B3, PAH, PAK3, PANK2, PARK2, PARK7, PARN, PAX3, PAX6, PCCA, PCCB, PCDH12, PCDH15, PCDH19, PCLO, PCNA, PCYT1A, PDC, PDE10A, PDE2A, PDE6D, PDE8B, PDGFB, PDGFRB, PDHA1, PDHX, PDP1, PDSS2, PDX1, PDYN, PDZD7, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFN1, PGAP1, PGK1, PGM3, PHC1, PHGDH, PHKA1, PHOX2B, PHYH, PIBF1, PIEZO2, PIGA, PIGG, PIGN, PIGQ, PIK3CA, PIK3R5, PINK1, PLA2G6, PLAA, PLCB1, PLD3, PLEKHG2, PLEKHG4, PLP1, PLXND1, PMM2, PMP22, PMPCA, PMS1, PNKD, PNKP, PNP, PNPLA6, PNPLA8, PNPT1, PODXL, POLA1, POLG, POLG2, POLR1C, POLR1D, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PON1, PON2, PON3, POU1F1, POU4F1, PPARGC1A, PPM1K, PPP1R15B, PPT1, PQBP1, PRDM8, PRF1, PRICKLE1, PRKCG, PRKRA, PRNP, PROK2, PROKR2, PROP1, PRPH, PRPS1, PRRT2, PRSS12, PRTN3, PRX, PSAP, PSAT1, PSEN1, PSEN2, PSMC3IP, PTCH1, PTCH2, PTCHD1, PTPN22, PTRH2, PTS, PUM1, PURA, PYCR2, QARS, QDPR, QKI, RAB11B, RAB12, RAB18, RAB27A, RAB39B, RAB3GAP1, RAB3GAP2, RAD50, RAD51, RARS, RARS2, RASA1, RAX, RBFOX1, RBM10, RBPJ, RD3, RDH12, REEP1, REEP2, RELN, REPS1, RERE, RETREG1, REV3L, RFC2, RFT1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF125, RNF168, RNF170, RNF216, ROGDI, RORA, RPE65, RPGRIP1, RPGRIP1L, RPIA, RPS6KA3, RRM2B, RSPH4A, RTEL1, RTN2, RTN4IP1, RTTN, SACS, SAMD9, SAMD9L, SAMHD1, SARS2, SASS6, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN4A, SCN8A, SCN9A, SCO1, SCO2, SCP2, SCYL1, SDCCAG8, SDHA, SDHAF1, SDHB, SDHC, SDHD, SEC23B, SEMA3A, SEPSECS, SERAC1, SETBP1, SETD2, SETX, SFXN4, SGCE, SHANK3, SHH, SIGMAR1, SIK1, SIL1, SIX3, SIX6, SKI, SLC12A3, SLC12A5, SLC12A6, SLC13A5, SLC16A2, SLC17A5 , SLC18A2, SLC18A3, SLC19A2, SLC19A3, SLC1A2, SLC1A3, SLC1A4, SLC20A2, SLC25A1, SLC25A12, SLC25A15, SLC25A22, SLC25A32, SLC25A4, SLC25A46, SLC26A4, SLC2A1, SLC2A3, SLC30A10, SLC30A9, SLC33A1, SLC39A14, SLC39A4, SLC46A1, SLC52A2, SLC52A3, SLC5A7, SLC6A1, SLC6A17, SLC6A19, SLC6A3, SLC6A5, SLC6A8, SLC9A1, SLC9A6, SMAD4, SMARCA4, SMARCB1, SMC1A, SMPD1, SNAI2, SNAP25, SNAP29, SNCA, SNCAIP, SNX14, SOD1, SORL1, SOST, SOX10, SOX2, SOX3, SOX5, SOX6, SPAST, SPATA5, SPATA7, SPG11, SPG20, SPG21, SPG7, SPIDR, SPR, SPRY4, SPTAN1, SPTBN2, SQSTM1, SRD5A3, ST3GAL3, ST3GAL5, STAMBP, STAT3, STAT4, STIL, STRADA, STUB1, STX11, STX16, STXBP1, STXBP2, SUCLA2, SUCLG1, SUFU, SUMF1, SUOX, SURF1, SUZ12, SYNE1, SYNGAP1, SYNJ1, SYT14, SYT2, TAC3, TACO1, TACR3, TAF1, TAF15, TAF2, TANGO2, TARDBP, TAT, TBC1D20, TBC1D24, TBCD, TBCE, TBK1, TBL2, TBX18, TCF4, TCN2, TCOF1, TCTN1, TCTN2, TCTN3, TDP1, TDP2, TEAD1, TECPR2, TECR, TELO2, TENM1, TERT, TFG, TGFB1, TGFBR2, TGFBR3, TGM6, TH, THAP1, THG1L, TIMM8A, TIMMDC1, TINF2, TK2, TLR4, TMEM126B, TMEM138, TMEM216, TMEM231, TMEM237, TMEM240, TMEM5, TMEM67, TMEM70, TOE1, TOMM40, TOP2A, TOR1A, TOR1AIP1, TP53RK, TPI1, TPK1, TPM2, TPM3, TPP1, TPP2, TPRKB, TRAF3IP1, TRAPPC11, TRAPPC12, TRAPPC9, TREM2, TREX1, TRIM32, TRMT5, TRNT1, TRPC3, TRPV4, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TTBK2, TTC19, TTC8, TTF1, TTPA, TTR, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUFM, TULP1, TUSC3, TWIST1, TXN2, TYMP, TYROBP, UBA5, UBAC2, UBE3A, UBQLN2, UBR4, UBTF, UCHL1, UFC1, UNC13A, UNC13D, UNC80, UPB1, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, UROC1, UROD, USB1, USH1C, USH1G, USH2A, USP8, VAC14, VAMP1, VAPB, VARS2, VCP, VLDLR, VPS11, VPS13A, VPS13B, VPS13C, VPS16, VPS35, VPS37A, VPS53, VRK1, VWA3B, WARS2, WDPCP, WDR11, WDR19, WDR45, WDR45B, WDR48, WDR62, WDR73, WDR81, WFS1, WHSC1, WNK1, WRAP53, WWOX, XPA, XPC, XPR1, XRCC1, XRCC4, YME1L1, YWHAE, ZBTB18, ZBTB47, ZC3H14, ZC4H2, ZFR, ZFYVE26, ZFYVE27, ZNF335, ZNF423, ZNF592
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with ataxia

Ordering

J762
6 weeks
2-5 mL Blood - Lavender Top Tube
Dried Blood Spots | Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81286x1, 81185x1, 81403x1, 81404x1, 81405x2, 81406x4, 81407x1, 81408x2
Yes
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Bird T. Hereditary Ataxia Overview. 1998 Oct 28 [Updated 2016 Nov 3]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: https://www.ncbi.nlm.nih.gov/boo
  2. Finsterer et al. (2009) Can J Neurol Sci 36 (4):409-28 (PMID: 19650351)
  3. Jayadev et al. (2013) Genet. Med. 15 (9):673-83 (PMID: 23538602)
  4. Sandford et al. (2014) Genes (Basel) 5 (3):586-603 (PMID: 25055202)
  5. Durr et al. (2010) Lancet Neurol 9 (9):885-94 (PMID: 20723845)
  6. Embiruçu et al. (2009) Arq Neuropsiquiatr 67 (4):1143-56 (PMID: 20069237)
  7. Kalia et al. (2016) Genet. Med.: (PMID: 27854360)
  8. Nemeth et al. (2013) Brain 136 (Pt 10):3106-18 (PMID: 24030952)
  9. Sastry et al. Exome Sequencing Provides a Broad Evaluation and High Diagnostic Rate for Ataxia-Related Disorders [abstract and platform presentation] To be presented at the 2017 ACMG Annual Clinical Genetics Meeting, March 21-25, 2016 Phoenix, AZ
  10. Retterer et al. (2015) Genet. Med.: (PMID: 26633542)