Advances in the molecular genetics of hypogonadotropic hypogonadism

Journal of Pediatric Endocrinology and Metabolism

Volumn 14, Issue 1, 2001, Pages 3-15

  Achermann, J C ^a   Jameson, J L ^a  

^a NORTHWESTERN UNIVERSITY   (United States)

Author keywords

DAX1; GnRH; HESX1; Hypogonadotropic hypogonadism; Kallmann syndrome; LHX3; Mutations; PROP1

Indexed keywords

ADENOHYPOPHYSIS HORMONE; CELL NUCLEUS RECEPTOR; FOLLITROPIN; FURIN; GONADORELIN; GONADORELIN RECEPTOR; GONADOTROPIN; GONADOTROPIN DERIVATIVE; HORMONE PRECURSOR; HYPOTHALAMUS HORMONE; LEPTIN; LUTEINIZING HORMONE; STEROIDOGENIC FACTOR 1; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR PIT 1;

ADOLESCENT; ADULT; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; CHILD; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; ENDOCRINE DISEASE; FEMALE; FETUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; HORMONAL REGULATION; HORMONE ACTION; HORMONE RELEASE; HORMONE SYNTHESIS; HUMAN; HUMAN CELL; HYPOGONADOTROPIC HYPOGONADISM; HYPOTHALAMUS; HYPOTHALAMUS HYPOPHYSIS GONAD SYSTEM; INFANT; KALLMANN SYNDROME; MALE; MOLECULAR GENETICS; MOUSE; NONHUMAN; PATHOPHYSIOLOGY; PROTEIN ANALYSIS; RAT; REVIEW; TREATMENT PLANNING; X CHROMOSOME LINKAGE;

ADRENAL INSUFFICIENCY; DNA-BINDING PROTEINS; EXTRACELLULAR MATRIX PROTEINS; FUSHI TARAZU TRANSCRIPTION FACTORS; GONADOTROPIN-RELEASING HORMONE; GONADOTROPINS, PITUITARY; HOMEODOMAIN PROTEINS; HUMANS; HYPOGONADISM; KALLMANN SYNDROME; LINKAGE (GENETICS); MUTATION; NERVE TISSUE PROTEINS; PITUITARY HORMONES; RECEPTORS, CYTOPLASMIC AND NUCLEAR; RECEPTORS, RETINOIC ACID; REPRESSOR PROTEINS; TRANSCRIPTION FACTORS; X CHROMOSOME;

EID: 0035117344     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (63)

1. Adult-onset idiopathic hypogonadotropic hypogonadism - A treatable form of male infertility
2. The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human
3. Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): Pathophysiological and genetic considerations
4. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome
5. A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules
6. The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules
7. Anosmin-1 is a regionally restricted component of basement membranes and interstitial matrices during organogenesis: Implications for the developmental anomalies of X chromosome-linked Kallman syndrome
8. Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome
9. A novel aminoterminal mutation in the KAL-1 gene in a large pedigree with X-linked Kallmann syndrome
10. Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome
11. Gonadotropin-releasing hormone immunoreactivity in the nasal epithelia of adults with Kallman's syndrome and isolated hypogonadotropic hypogonadism and in the early midtrimester human fetus
12. Expression pattern of the Kallmann syndrome gene in the olfactory system suggests a role in neuronal targeting
13. KAL, a gene mutated in Kallmann's syndrome, is expressed in the first trimester of human development
14. Genetic heterogeneity evidence by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency
15. Addison's disease due to congenital hypoplasia of the adrenals in an infant aged 33 days
16. Identification of new markers in Xp21 between DXS28 (C7) and DMD
17. An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita
18. Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
19. A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal
20. DAX1 mutations map to putative structural domains in a deduced three-dimensional model
21. Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita
22. Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita
23. X-linked adrenal hypoplasia congenita and DAX-1
24. A novel mutation in DAX1 causes delayed onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism
25. The role of DAX-1 in reproduction
26. Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: Evidence that DAX-1 mutations lead to combined hypothalamic and pituitary defects in gonadotropin production
27. X-linked adrenal hypoplasia congenita: A mutation in DAX1 expands the phenotypic spectrum in males and females
28. Role of Ahch in gonadal development and gametogenesis
29. Hypogonadotropic hypogonadism in a female caused by an X-linked recessive mutation in the DAX1 gene
30. Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay
31. Steroidogenic factor 1: A key determinant of endocrine development and function
32. The nuclear factor steroidogenic factor 1 is essential for the formation of the ventromedial hypothalamic nucleus
33. A mutation in the gene encoding steroidogenic factor-1 causes XY sex-reversal and adrenal failure in humans
34. Normal sequence of the gonadotropin-releasing hormone gene in patients with idiopathic hypogonadotropic hypogonadism
35. A leptin missense mutation associated with hypogonadism and morbid obesity
36. A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction
37. Leptin, nutrition, and reproduction: Timing is everything
38. Effects of recombinant leptin therapy in a child with congenital leptin deficiency
39. Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene
40. Brief report: Impaired processing of prohormones associated with abnormalities of glucose homeostasis and adrenal function
41. A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor
42. Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism
43. Resistance of hypogonadic patients with mutated GnRH receptor gene to pulsatile GnRH administration
44. Complete hypogonadotropic hypogonadism associated with a novel inactivating mutation of the gonadotropin-releasing hormone receptor
45. The same molecular defects of the gonadotropin-releasing hormone receptor determine a variable degree of hypogonadism in affected kindred
46. Successful use of pulsatile gonadotropin-releasing hormone (GnRH) for ovulation induction and pregnancy in a patient with GnRH receptor mutations
47. Mutations in the homeobox gene HESX1/Hex1 associated with septo-optic dysplasia in human and mouse
48. Specification of pituitary cell lineages by the LIM homeobox gene Lhx3
49. Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency
50. Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defective in Ames dwarfism
51. Mutations in PROP1 cause familial combined pituitary hormone deficiency
52. Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg→Cys at codon 120 (R120C)
53. Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-based pair deletion (301-302delAG) in the prophet of Pit-1 gene
54. Primary amenorrhoea and infertility due to a mutation in the beta-subunit of follicle-stimulating hormone
55. Delayed puberty and hypogonadism caused by mutations in the follicle-stimulating hormone beta-subunit gene
56. Isolated deficiency of follicle-stimulating hormone re-revisited
57. Follicle stimulating hormone is required for ovarian follicle maturation but not male fertility
58. Mutation in the follicle-stimulating hormoen receptor gene causes hereditary hypergonadotropic ovarian failure
59. Men homozygous for an inactivating mutation of the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility
60. Male hypogonadism due to a mutation in the gene for the beta-subunit of follicle-stimulating hormone
61. Follitropin (FSH) deficiency in an infertile male due to FSHbeta gene mutation. A syndrome of normal puberty and verilization but underdeveloped testicles with azoospermia, low FSH but high lutropin and concentrations
62. Hypogonadism caused by a single amino acid substitution in the beta subunit of luteinizng hormone
63. A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the receptor