Inherited disorders of the gonadotropin hormones

Molecular and Cellular Endocrinology

Volumn 179, Issue 1-2, 2001, Pages 89-96

  Achermann, John C ^a   Weiss, Jeffrey ^a   Lee, Eun Jig ^a   Jameson, J Larry ^a  

^a NORTHWESTERN UNIVERSITY   (United States)

Author keywords

DAX 1; GnRH; Gonadotropins; Kallmann; Pituitary; Reproduction; SF 1

Indexed keywords

CELL NUCLEUS RECEPTOR; FOLLITROPIN; FOLLITROPIN RECEPTOR; GONADORELIN; GONADORELIN RECEPTOR; GONADOTROPIN; LUTEINIZING HORMONE; STEROIDOGENIC FACTOR 1;

BRAIN NERVE CELL; FEMALE; GAMETOGENESIS; GENE; GENE EXPRESSION; GENETIC COUNSELING; GENETIC DISORDER; HORMONE RELEASE; HORMONE SYNTHESIS; HUMAN; HYPOPHYSIS; HYPOTHALAMUS; KALLMANN SYNDROME; MALE; MOLECULAR BIOLOGY; MUTATION; PRIORITY JOURNAL; REPRODUCTION; REVIEW; STEROIDOGENESIS;

ANIMALS; DNA-BINDING PROTEINS; FEMALE; FUSHI TARAZU TRANSCRIPTION FACTORS; GAMETOGENESIS; GONADOTROPIN-RELEASING HORMONE; GONADOTROPINS; HOMEODOMAIN PROTEINS; HUMANS; KALLMANN SYNDROME; MALE; MUTATION; PITUITARY GLAND, ANTERIOR; RECEPTORS, CYTOPLASMIC AND NUCLEAR; SEX DIFFERENTIATION DISORDERS; TRANSCRIPTION FACTORS;

EID: 0035919206     PISSN: 03037207     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0303-7207(01)00474-9     Document Type: Review

References (39)

1. Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay
2. A mutation in the gene encoding steroidogenic factor-1 causes XY sex-reversal and adrenal failure in humans
3. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure
4. A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction
5. Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse
6. A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor
7. Impairing follicle-stimulating hormone (FSH) signaling in vivo: targeted disruption of the FSH receptor leads to aberrant gametogenesis and hormonal imbalance
8. 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)
9. A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules
10. Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency
11. Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalamic and pituitary defects in gonadotropin production
12. The nuclear factor steroidogenic factor 1 is essential for the formation of the ventromedial hypothalamic nucleus
13. Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene
14. Follicle stimulating hormone is required for ovarian follicle maturation but not male fertility
15. Crystal structure of human chorionic gonadotropin
16. 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 cell surface receptor
17. Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism
18. Delayed puberty and hypogonadism caused by mutations in the follicle-stimulating hormone beta-subunit gene
19. The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules
20. A new molecular variant of luteinizing hormone associated with female infertility
21. Follitropin (FSH) deficiency in an infertile male due to FSHbeta gene mutation. A syndrome of normal puberty and virilization but underdeveloped testicles with azoospermia, low FSH but high lutropin and normal serum testosterone concentrations
22. Isolated deficiency of follicle-stimulating hormone re-revisited
23. Primary amenorrhoea and infertility due to a mutation in the beta-subunit of follicle-stimulating hormone
24. Hypogonadotropic hypogonadism in a female caused by an X-linked recessive mutation in the DAX1 gene
25. Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
26. Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency
27. Steroidogenic factor 1: a key determinant of endocrine development and function
28. Male hypogonadism due to a mutation in the gene for the beta-subunit of follicle-stimulating hormone
29. X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females
30. Successful use of pulsatile gonadotropin-releasing hormone (GnRH) for ovulation induction and pregnancy in a patient with GnRH receptor mutations
31. Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations
32. A leptin missense mutation associated with hypogonadism and morbid obesity
33. A novel mutation in DAX1 causes delayed onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism
34. Men homozygous for an inactivating mutation of the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility
35. Normal sequence of the gonadotropin-releasing hormone gene in patients with idiopathic hypogonadotropic hypogonadism
36. Hypogonadism caused by a single amino acid substitution in the beta subunit of luteinizing hormone
37. Mutations in PROP1 cause familial combined pituitary hormone deficiency
38. Role of Ahch in gonadal development and gametogenesis
39. An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita