Alternative titles; symbols
HGNC Approved Gene Symbol: FSHB
Cytogenetic location: 11p14.1 Genomic coordinates (GRCh38): 11:30,231,014-30,235,194 (from NCBI)
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 11p14.1 | Hypogonadotropic hypogonadism 24 without anosmia | 229070 | Autosomal recessive | 3 |
Follicle-stimulating hormone enables ovarian folliculogenesis to the antral follicle stage and is essential for Sertoli cell proliferation and maintenance of sperm quality in the testis. Members of the pituitary glycoprotein hormone family, of which FSH is one (see also luteinizing hormone, 152780; chorionic gonadotropin, 118860; and thyroid-stimulating hormone, 188540) consist of a shared alpha chain (118850) and a beta chain encoded by a separate gene. The FSHB gene encodes the beta subunit of follicle-stimulating hormone.
Shome and Parlow (1974) and Watkins et al. (1987) sequenced the beta chain of follitropin (follicle-stimulating hormone; FSH).
Using a genomic probe in the study of somatic cell hybrids, Watkins et al. (1985) assigned the FSHB gene to chromosome 11. By analysis of cell hybrids containing translocated derivatives of chromosome 11, Watkins et al. (1987) further localized FSHB to 11pter-p11.2. Glaser et al. (1986) isolated the deleted chromosome 11 from 4 patients with the WAGR syndrome (194070) in hamster-human somatic cell hybrids and tested genomic DNA from the hybrids with chromosome 11-specific probes. Only the FSHB gene was deleted in all 4 patients, suggesting close linkage between FSHB and WAGR. The authors thought the following order likely: centromere--CAT--AN2--(WAGR-FSHB)--telomere. The observations of Lewis and Yeger (1987) placed FSHB distal to the aniridia locus (AN2; 106210).
Concentrations of LH and FSH are known to increase during normal pubertal development, but changes in their isoforms have not been investigated in depth. Phillips et al. (1997) examined the median charge of serum LH and FSH using agarose in 81 normal children at pubertal stages I to V. In pubertal girls, there was a small (p = 0.05) shift to more acidic FSH isoforms between pubertal stages I and IV. In boys, there was a significant (P less than 0.01) shift to more acidic isoforms of FSH by pubertal stage II. Further changes were not found later in puberty. The median charge was more basic (P less than 0.001) for FSH in girls compared with boys at all 5 pubertal stages. The authors concluded that while there are few qualitative changes in the gonadotropins during normal female puberty, there is a dramatic shift to more acidic isoforms of LH and FSH early in male puberty.
Girls with reduced prenatal growth have a small ovarian fraction of primordial follicles at birth and, in adolescence, a uterus and ovaries of small size. Ibanez et al. (2000) examined whether reduced prenatal growth is also followed by changes in the relationships among FSH, inhibin B (see 147290), and estradiol in adolescent girls. They studied 48 postmenarcheal girls (age 13.6 +/- 1.4 years), 33 of whom were born with an appropriate weight for gestational age (AGA; mean weight, 3.3 kg), and 15 of whom were born small for gestational age (SGA; mean weight, 2.4 kg). Serum FSH, inhibin B, and estradiol concentrations were measured in the early follicular phase (range, day 5 +/- 3). SGA girls, when compared to AGA girls, had elevated serum FSH (7.2 +/- 0.7 vs 4.5 +/- 0.3 IU/mL; p of 0.0002), similar inhibin B (62.1 +/- 8.1 vs 60.7 +/- 6.5 pg/mL), and lower estradiol concentrations (12.1 +/- 1.5 vs 21.2 +/- 2.4 pg/mL; p of 0.02). SGA girls thus displayed, early after menarche, a pattern that pointed to hyporesponsiveness of the ovarian granulosa cell fraction, reminiscent of reproductive aging. The authors concluded that the gynecologic correlates of prenatal growth restriction include ovarian hyporesponsiveness to FSH in adolescence.
Ibanez et al. (2002) assessed serum concentrations of FSH and inhibin B in 46 infants, 17 AGA and 29 SGA, together with circulating levels of LH, estradiol, and free androgen index. Mean birthweights were 3.2 kg for AGA vs 2.3 kg for SGA. In SGA girls and boys, serum FSH levels were 2- and 4-fold higher (p less than 0.001), respectively, than in AGA controls of the same gender. (P less than 0.001), respectively, than in AGA controls of the same Serum LH, inhibin B, and free androgen index/estradiol concentrations were similar in AGA and SGA infants. Prenatal growth restraint was found to be followed by elevated serum FSH concentrations in infant girls and boys.
Lambalk et al. (1998) compared the third day of menses parameters of episodic secretion of LH and FSH, the pituitary response to luteinizing hormone-releasing hormone (LHRH), plasma estradiol, and dimeric inhibin A and B in 16 regularly menstruating and 9 postmenopausal mothers of dizygotic twins with a family history of twinning and 14 premenopausal and 9 postmenopausal controls. Seven of 16 premenopausal mothers of twins had abnormally high FSH levels of more than 10 IU/l compared with 1 of 14 in controls (p = 0.024). In the premenopausal mothers of twins, mean FSH concentrations (p = 0.025) and FSH pulse frequency (p = 0.003) were significantly elevated, whereas FSH pulse amplitude and FSH response to LHRH were unaltered. For LH, neither the secretory parameters nor the responses to LHRH were different. There were no differences between estradiol and inhibin A and B levels. The authors concluded that under equal ovarian feedback conditions, premenopausal mothers of a dizygotic twin have hyperstimulation by endogenous FSH caused by neuroendocrine, hypothalamic, or pituitary mechanisms.
To test the hypothesis that FSH might be responsible for anti-mullerian hormone (AMH; 600957) upregulation in the absence of androgen inhibition, Young et al. (2005) administered recombinant human FSH to 8 male patients aged 18 to 31 years with untreated congenital hypogonadotropic hypogonadism (see 147950). Although LH and testosterone did not vary, AMH and inhibin B levels gradually increased after 20 days of FSH administration. However, in contrast to FSH alone, combined FSH plus chorionic gonadotropin (CG; see 118860) stimulation of the testis dramatically suppressed the secretion of AMH and induced a modest but significant reduction of circulating inhibin B levels. The authors concluded that FSH stimulates AMH production in the testis when it is at a prepubertal stage.
Using mouse models and human and mouse cells, Sun et al. (2006) showed that FSH was required for hypogonadal bone loss. Neither Fshb -/- nor Fshr -/- mice had bone loss, despite severe hypogonadism. Bone mass was increased and osteoclastic resorption was decreased in haploinsufficient Fshb +/- mice with normal ovarian function, suggesting that the skeletal action of FSH is estrogen independent. RT-PCR, immunoprecipitation, and FACS analyses showed that FSHR was expressed in mouse and human osteoclasts and CD11B (ITGAM; 120980)-positive osteoclast precursors and localized to the membrane surface. Further analysis showed that FSH signaled via a GNAI2 (139360)-coupled FSHR on osteoclasts and their precursors, resulting in activation of MEK (see 176872)/ERK (see 601795), NF-kappa-B (see 164011), and AKT (see 164730) pathways and increased osteoclastogenesis and bone resorption. Sun et al. (2006) concluded that high circulating FSH causes hypogonadal bone loss.
Liu et al. (2017) reported that a polyclonal antibody that targets Fshb sharply reduces adipose tissue in wildtype mice, phenocopying genetic haploinsufficiency for the Fsh receptor gene Fshr (136435). The antibody also caused profound beiging of white adipocytes, increased cellular mitochondrial density, activated brown adipose tissue, and enhanced thermogenesis. These actions resulted from the specific binding of the antibody to Fshb to block its action.
Crystal Structure
Fox et al. (2001) determined the crystal structure of a thr26-to-ala mutant of FSH-beta to 3.0-angstrom resolution. The alpha and beta subunits of FSH have similar folds, consisting of central cystine-knot motifs from which 3 beta-hairpins extend. The 2 subunits associate very tightly in a head-to-tail arrangement, forming an elongated, slightly curved structure, similar to that of human chorionic gonadotropin (CG). Detailed comparison of the structures of FSH and CG reveals several differences in the beta-subunits that may be important with respect to receptor binding specificity or signal transduction. These differences include conformational changes and/or differential distributions of polar or charged residues in loops L3-beta (FSH residues 62-73), the cystine noose, or determinant loop (residues 87-94), and the carboxy-terminal loop (residues 94-104). The structure reveals an intersubunit hydrogen bonding interaction between this carbohydrate and tyr58, an indication of a mechanism by which the carbohydrate may stabilize the heterodimer.
Fan and Hendrickson (2005) presented the 2.9-angstrom resolution structure of a partially deglycosylated complex of human FSH bound to the extracellular hormone-binding domain of its receptor, FSHR (136435). The hormone is bound in a hand-clasp fashion to an elongated curved receptor. The buried interface of the complex is large (2,600 angstroms) and has a high charge density. Fan and Hendrickson (2005) suggested that all glycoprotein hormones bind to their receptors in this mode and that binding specificity is mediated by key interaction sites involving both the common alpha- and hormone-specific beta-subunits. On binding, FSH underwent a concerted conformational change that affected protruding loops implicated in the receptor activation. The FSH-FSHR complexes formed dimers in the crystal and at high concentrations in solution.
Glycosylation
Walton et al. (2001) studied human FSH isoforms separated by chromatofocusing. Western blot analysis detected 2 human FSH-beta isoforms. A low molecular weight human FSH-beta isoform was associated with all FSH isoform fractions. A high molecular weight human FSH-beta isoform was associated with the more acidic fractions and increased in relative abundance as the pI decreased. Characterization of representative human FSH-beta isoforms by mass spectrometry and automated Edman degradation revealed a low molecular weight isoform that was not glycosylated. A high molecular weight isoform was N-glycosylated at asn residues 7 and 24. These results indicated that pituitary human FSH consists of 2 classes of molecules: those that possess a nonglycosylated beta-subunit and those that possess a glycosylated beta-subunit. Glycoprotein hormones are elliptical molecules, and the beta-subunit oligosaccharides project outward from the short diameter, thereby increasing it. The authors speculated that this change in shape might affect ultrafiltration rates, leading to differences in delivery rates to target tissues and elimination by filtration in the kidney.
Hypogonadotropic Hypogonadism 24 without Anosmia
In a 27-year-old Italian woman with hypogonadotropic hypogonadism due to isolated deficiency of pituitary FSH (HH24; 229070), who had primary amenorrhea and infertility with normal luteinizing hormone (LH; see 152780) secretion, Matthews et al. (1993) found homozygosity for a 2-bp frameshift deletion (136530.0001) in the coding sequence of the FSHB gene. The proband's mother, who was heterozygous for the mutation, had been amenorrheic and infertile for 6 years before conception of the proband, her only child.
In an Israeli woman with primary amenorrhea due to isolated deficiency of FSH, Matthews and Chatterjee (1997) identified the same 2-bp deletion found in the Italian patient by Matthews et al. (1993). Females heterozygous for the genetic defect were seemingly reproductively normal in the Israeli family.
In a 16-year-old girl who presented with primary amenorrhea and FSH deficiency, Layman et al. (1997) identified compound heterozygosity for the 2-bp deletion and a missense mutation in the FSHB gene (C51G; 136530.0002). The heterozygous relatives of the patient were clinically normal.
In an 18-year-old man with hypogonadism due to isolated deficiency of FSH, Phillip et al. (1998) identified homozygosity for the 2-bp deletion in codon 61 of the FSHB gene. His unaffected parents and brother were heterozygous for the deletion.
In a 28-year-old Serbian man with infertility, azoospermia, and undetectable FSH, Lindstedt et al. (1998) analyzed the FSHB gene and identified homozygosity for a missense mutation (C82R; 136530.0004).
In an affected sister and brother from a consanguineous Brazilian family with isolated FSH deficiency and infertility, Layman et al. (2002) identified homozygosity for a nonsense mutation in the FSHB gene (Y76X; 136530.0003).
Associations Pending Confirmation
For discussion of a possible association between variation near the FSHB gene and dizygotic twinning, see 276400.
Adamopoulos (1999) pointed out that the terms 'follicle stimulating hormone' (FSH) and 'luteinizing hormone' (LH) describe accurately the biologic effects of these gonadotropins in the female, but are totally irrelevant to their role and actions in the male gonads. They urged the use of different terms for the gonadotropins according to the sex of the gonad. They suggested that the terms 'spermotropin' and 'androtropin' were preferable to FSH and LH, respectively, in the male. However, because proper abbreviations could not be offered for either of these, they proposed that in the male 2 new terms be introduced for the gonadotropins, acting on seminiferous tubules and Leydig cells, respectively. Spermatogenesis-promoting hormone (SPH) was the favored replacement for FSH. They suggested Leydig cell-stimulating hormone (LSH) for the latter.
Sun et al. (2006) found that Fshb -/- female mice were sterile and severely hypogonadal with atrophic ovaries and thread-like uteri. Despite the severe hypogonadism, Fshb -/- mice did not lose bone and showed increased bone mass. Fshb +/- mice were eugonadal and fully fertile, with normal ovaries and uteri, but they had a 50% reduction in serum Fsh levels. Fshb +/- mice exhibited decreased osteoclast differentiation and bone resorption and increased trabecular number and bone mass, suggesting a direct, estrogen-independent effect of FSH on the skeleton.
In an Italian woman with primary amenorrhea and infertility associated with isolated deficiency of pituitary FSH (HH24; 229070) and normal LH (see LHB, 152780) secretion, Matthews et al. (1993) found homozygosity for a 2-bp frameshift deletion in exon 3 of the FSHB gene. The proband's mother and son were heterozygous for the deletion. The mother had been amenorrheic and infertile for 6 years before conception of her only child; the proband's father was deceased, and no information was available regarding his fertility. Codon 61 in exon 3 was changed from GTG (val) to GAG (glu) by deletion of the second and third nucleotides. The deletion resulted in an alteration of amino acid codons 61 through 86, followed by a premature stop codon. The predicted truncated beta subunit lacked regions that are important for association with the alpha subunit (see 118850), and for binding to and activation of the FSH receptor (FSHR; 136435). Abnormalities of FSH structure or function may represent an underrecognized but treatable cause of infertility; in the patient reported by Matthews et al. (1993), ovulation was induced by administration of exogenous FSH and resulted in a successful pregnancy.
In an Israeli woman with primary amenorrhea due to isolated deficiency of FSH, originally reported by Rabin et al. (1972), Matthews and Chatterjee (1997) identified the same 2-bp deletion found in the Italian patient by Matthews et al. (1993). The proband's 18-year-old daughter and her sister were both heterozygous for the 2-bp deletion; both had normal serum FSH levels and regular menstrual cycles, and the sister had 3 normal pregnancies, suggesting that reproductive function is not compromised in female heterozygotes.
In a 16-year-old girl with delayed puberty and hypogonadism due to FSH deficiency, Layman et al. (1997) identified compound heterozygosity for the FSHB 2-bp deletion and a c.151T-G transversion in exon 3 of the FSHB gene, resulting in a cys51-to-gly (C51G; 136530.0002) substitution. Her unaffected parents were each heterozygous for 1 of the mutations; a sister and a half sister who were heterozygous for the missense mutation had 2 and 3 children, respectively, and a half brother who carried C51G had normal puberty and normal semen analysis.
In an 18-year-old man with hypogonadism due to isolated deficiency of FSH, Phillip et al. (1998) identified homozygosity for the 2-bp deletion in codon 61 of the FSHB gene. His unaffected parents and brother were heterozygous for the deletion.
Nagirnaja et al. (2010) referred to this mutation as 2631TGdel, Val61del2bp/87Ter.
For discussion of the cys51-to-gly (C51G) mutation in the FSHB gene that was found in compound heterozygous state in a patient with hypogonadotropic hypogonadism-24 (HH24; 229070) by Layman et al. (1997), see 136530.0001.
Nagirnaja et al. (2010) referred to this mutation as 2600T-G in exon 3.
In a sister and brother from a consanguineous Brazilian family with infertility and isolated FSH deficiency (HH24; 229070), who exhibited partial and full pubertal development, respectively, Layman et al. (2002) identified homozygosity for a C-to-A transversion in exon 3 of the FSHB gene, resulting in a tyr76-to-ter (Y76X) substitution. Heterozygotes in the family had normal puberty and fertility. In vitro analysis of this mutant demonstrated unmeasurable FSH by immunoassay and by 2 different bioassays, using either cAMP (homologous FSH bioassay) or estradiol (rat granulosa cell assay) as the endpoints. Layman et al. (2002) concluded that the evidence of puberty in the sibs they studied suggested that other factors might preserve gonadal steroidogenesis in the absence of FSH or that neither bioassay could discriminate among very low FSH levels.
Nagirnaja et al. (2010) referred to this mutation as 2677C-A in exon 3.
In a 28-year-old Serbian man with infertility, azoospermia, and undetectable FSH (HH24; 229070), Lindstedt et al. (1998) identified homozygosity for a T-to-C transition in exon 3 of the FSHB gene, resulting in a cys82-to-arg (C82R) substitution at a conserved residue.
Nagirnaja et al. (2010) referred to this mutation as 2693T-C.
Adamopoulos, D. A. Old Chinese proverb: 'The beginning of wisdom is to call things by their right names'--at least until the biology changes. (Letter) Fertil. Steril. 71: 967-968, 1999. [PubMed: 10231068] [Full Text: https://doi.org/10.1016/s0015-0282(99)00080-1]
Fan, Q. R., Hendrickson, W. A. Structure of human follicle-stimulating hormone in complex with its receptor. Nature 433: 269-277, 2005. [PubMed: 15662415] [Full Text: https://doi.org/10.1038/nature03206]
Fox, K. M., Dias, J. A., Van Roey, P. Three-dimensional structure of human follicle-stimulating hormone. Molec. Endocr. 15: 378-389, 2001. [PubMed: 11222739] [Full Text: https://doi.org/10.1210/mend.15.3.0603]
Glaser, T., Lewis, W. H., Bruns, G. A. P., Watkins, P. C., Rogler, C. E., Shows, T. B., Powers, V. E., Willard, H. F., Goguen, J. M., Simola, K. O. J., Housman, D. E. The beta-subunit of follicle-stimulating hormone is deleted in patients with aniridia and Wilms' tumour, allowing a further definition of the WAGR locus. Nature 321: 882-887, 1986. [PubMed: 3014343] [Full Text: https://doi.org/10.1038/321882a0]
Ibanez, L., Potau, N., de Zegher, F. Ovarian hyporesponsiveness to follicle stimulating hormone in adolescent girls born small for gestational age. J. Clin. Endocr. Metab. 85: 2624-2626, 2000. [PubMed: 10902818] [Full Text: https://doi.org/10.1210/jcem.85.7.6765]
Ibanez, L., Valls, C., Cols, M., Ferrer, A., Marcos, M. V., De Zegher, F. Hypersecretion of FSH in infant boys and girls born small for gestational age. J. Clin. Endocr. Metab. 87: 1986-1988, 2002. [PubMed: 11994329] [Full Text: https://doi.org/10.1210/jcem.87.5.8459]
Lambalk, C. B., Boomsma, D. I., De Boer, L., De Koning, C. H., Schoute, E., Popp-Snijders, C., Schoemaker, J. Increased levels and pulsatility of follicle-stimulating hormone in mothers of hereditary dizygotic twins. J. Clin. Endocr. Metab. 83: 481-486, 1998. [PubMed: 9467561] [Full Text: https://doi.org/10.1210/jcem.83.2.4552]
Layman, L. C., Lee, E.-J., Peak, D. B., Namnoum, A. B., Vu, K. V., van Lingen, B. L., Gray, M. R., McDonough, P. G., Reindollar, R. H., Jameson, J. L. Delayed puberty and hypogonadism caused by mutations in the follicle-stimulating hormone beta-subunit gene. New Eng. J. Med. 337: 607-611, 1997. [PubMed: 9271483] [Full Text: https://doi.org/10.1056/NEJM199708283370905]
Layman, L. C., Porto, A. L. A., Xie, J., da Motta, L. A. C. R., da Motta, L. D. C., Weiser, W., Sluss, P. M. FSH-beta gene mutations in a female with partial breast development and a male sibling with normal puberty and azoospermia. J. Clin. Endocr. Metab. 87: 3702-3707, 2002. [PubMed: 12161499] [Full Text: https://doi.org/10.1210/jcem.87.8.8724]
Lewis, W. H., Yeger, H. Characterization of the aniridia-Wilms' tumor association region of chromosome 11p. (Abstract) Cytogenet. Cell Genet. 46: 650 only, 1987.
Lindstedt, G., Nystrom, E., Matthews, C., Ernest, I., Janson, P. O., Chatterjee, K. Follitropin (FSH) deficiency in an infertile male due to FSH-beta gene mutation: a syndrome of normal puberty and virilization but underdeveloped testicles with azoospermia, low FSH but high lutropin and normal serum testosterone concentrations. Clin. Chem. Lab. Med. 36: 663-665, 1998. [PubMed: 9806482] [Full Text: https://doi.org/10.1515/CCLM.1998.118]
Liu, P., Ji, Y., Yuen, T., Rendina-Ruedy, E., DeMambro, V. E., Dhawan, S., Abu-Amer, W., Izadmehr, S., Zhou, B., Shin, A. C., Latif, R., Thangeswaran, P., and 28 others. Blocking FSH induces thermogenic adipose tissue and reduces body fat. Nature 546: 107-112, 2017. [PubMed: 28538730] [Full Text: https://doi.org/10.1038/nature22342]
Matthews, C., Chatterjee, V. K. Isolated deficiency of follicle-stimulating hormone re-revisited. (Letter) New Eng. J. Med. 337: 642 only, 1997. [PubMed: 9280841] [Full Text: https://doi.org/10.1056/NEJM199708283370918]
Matthews, C. H., Borgato, S., Beck-Peccoz, P., Adams, M., Tone, Y., Gambino, G., Casagrande, S., Tedeschini, G., Benedetti, A., Chatterjee, V. K. K. Primary amenorrhoea and infertility due to a mutation in the beta-subunit of follicle-stimulating hormone. Nature Genet. 5: 83-86, 1993. [PubMed: 8220432] [Full Text: https://doi.org/10.1038/ng0993-83]
Nagirnaja, L., Rull, K., Uuskula, L., Hallast, P., Grigorova, M., Laan, M. Genomics and genetics of gonadotropin beta-subunit genes: unique FSHB and duplicated LHB/CGB loci. Molec. Cell. Endocr. 329: 4-16, 2010. [PubMed: 20488225] [Full Text: https://doi.org/10.1016/j.mce.2010.04.024]
Phillip, M., Arbelle, J. E., Segev, Y., Parvari, R. Male hypogonadism due to a mutation in the gene for the beta-subunit of follicle-stimulating hormone. New Eng. J. Med. 338: 1729-1732, 1998. [PubMed: 9624193] [Full Text: https://doi.org/10.1056/NEJM199806113382404]
Phillips, D. J., Albertsson-Wikland, K., Eriksson, K., Wide, L. Changes in the isoforms of luteinizing hormone and follicle-stimulating hormone during puberty in normal children. J. Clin. Endocr. Metab. 82: 3103-3106, 1997. [PubMed: 9284752] [Full Text: https://doi.org/10.1210/jcem.82.9.4254]
Rabin, D., Spitz, I. M., Bercovici, B., Bell, J., Laufer, A., Benveniste, R., Polishuk, W. Z. Isolated deficiency of follicle-stimulating hormone: clinical and laboratory features. New Eng. J. Med. 287: 1313-1317, 1972. [PubMed: 4344039] [Full Text: https://doi.org/10.1056/NEJM197212282872602]
Shome, B., Parlow, A. F. Human follicle stimulating hormone: first proposal for the amino acid sequence of the hormone-specific, beta subunit (hFSHb). J. Clin. Endocr. 39: 203-205, 1974. [PubMed: 4835136] [Full Text: https://doi.org/10.1210/jcem-39-1-203]
Sun, L., Peng, Y., Sharrow, A. C., Iqbal, J., Zhang, Z., Papachristou, D. J., Zaidi, S., Zhu, L.-L., Yaroslavskiy, B. B., Zhou, H., Zallone, A., Sairam, M. R., Kumar, T. R., Bo, W., Braun, J., Cardoso-Landa, L., Schaffler, M. B., Moonga, B. S., Blair, H. C., Zaidi, M. FSH directly regulates bone mass. Cell 125: 247-260, 2006. [PubMed: 16630814] [Full Text: https://doi.org/10.1016/j.cell.2006.01.051]
Walton, W. J., Nguyen, V. T., Butnev, V. Y., Singh, V., Moore, W. T., Bousfield, G. R. Characterization of human FSH isoforms reveals a nonglycosylated beta-subunit in addition to the conventional glycosylated beta-subunit. J. Clin. Endocr. Metab. 86: 3675-3685, 2001. [PubMed: 11502795] [Full Text: https://doi.org/10.1210/jcem.86.8.7712]
Watkins, P. C., Eddy, R., Beck, A. K., Vellucci, V., Leverone, B., Tanzi, R. E., Gusella, J. F., Shows, T. B. DNA sequence and regional assignment of the human follicle-stimulating hormone beta-subunit gene to the short arm of human chromosome 11. DNA 6: 205-212, 1987. [PubMed: 2885163] [Full Text: https://doi.org/10.1089/dna.1987.6.205]
Watkins, P., Eddy, R., Beck, A., Vellucci, V., Gusella, J., Shows, T. Assignment of the human gene for the beta subunit of follicle stimulating hormone (FSHB) to chromosome 11. (Abstract) Cytogenet. Cell Genet. 40: 773 only, 1985.
Young, J., Chanson, P., Salenave, S., Noel, M., Brailly, S., O'Flaherty, M., Schaison, G., Rey, R. Testicular anti-mullerian hormone secretion is stimulated by recombinant human FSH in patients with congenital hypogonadotropic hypogonadism. J. Clin. Endocr. Metab. 90: 724-728, 2005. [PubMed: 15536161] [Full Text: https://doi.org/10.1210/jc.2004-0542]