Evidence for genetic heterogeneity in male pseudohermaphroditism due to Leydig cell hypoplasia

Journal of Clinical Endocrinology and Metabolism

Volumn 84, Issue 10, 1999, Pages 3803-3806

  Zenteno, Juan Carlos ^a,b   Canto, Patricia ^a   Kofman Alfaro, Susana ^b   Mendez, Juan Pablo ^a,c  

^a HOSPITAL DE PEDIATRÍA   (Mexico)

^b UNIVERSIDAD NACIONAL AUTÓNOMA DE MÉXICO   (Mexico)

^c U Invest Medica Biol Desarrollo   (Mexico)

Author keywords

[No Author keywords available]

Indexed keywords

LUTEINIZING HORMONE RECEPTOR;

ADULT; ARTICLE; CASE REPORT; EXON; FEMALE; GENETIC HETEROGENEITY; HUMAN; HYPOPLASIA; LEYDIG CELL; MALE PSEUDOHERMAPHRODITISM; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; SCHOOL CHILD; SIBLING;

EID: 0033305014     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.84.10.3803     Document Type: Article

References (37)

1. SRY and sex determination in mammals
2. Fetal testis-a very special endocrine organ
3. Leydig-cell agenesis. A cause of male pseudohermaphroditism
4. Leydig cell hypoplasia: A cause of male pseudohermaphroditism
5. Inherited male pseudohermaphroditism due to gonadotropin unresponsiveness
6. Male pseudohermaphroditism secondary to an abnormality in Leydig cell differentiation
7. Leydig cell hypofunction resulting in male pseudohermaphroditism
8. Leydig cell hypogenesis: A rare cause of male pseudohermaphroditism and a pathological model for the understanding of normal sexual differentiation
9. Leydig cell hypoplasia causing male pseudohermaphroditism: Diagnosis 13 years after prepubertal castration
10. A syndrome of gonadotropin resistance possibly due to a luteinizing hormone receptor defect
11. Male pseudohermaphroditism resulting from Leydig cell hypoplasia
12. Familial Leydig cell hypoplasia as a cause of male pseudohermaphroditism
13. Male pseudohermaphroditism due to Leydig cell agenesis and absence of testicular LH receptors
14. Leydig cell hypoplasia leading to two different phenotypes: Male pseudohermaphroditism and primary hypogonadism not associated with this
15. Leydig cell hypoplasia determining familial hypergonadotropic hypogonadism
16. A clinico- genetic investigation of Leydig cell hypoplasia
17. Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene
18. A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia
19. Testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene
20. Compound heterozygous mutations of the luteinizing hormone receptor gene in Leydig cell hypoplasia
21. An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46,XX female
22. Comparison of immunocytochemical and molecular features with the phenotype in a case of incomplete male pseudohermaphroditism associated with a mutation of the luteinizing hormone receptor
23. Inactivation of the luteinizing hormone/chorionic gonadotropin receptor by an insertional mutation in Leydig cell hypoplasia
24. A novel mutation of the human luteinizing hormone receptor in 46XY and 46XX sisters
25. A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: Correlation between receptor activity and phenotype
26. A homozygous microdeletion in helix 7 of the luteinizlng 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
27. Structure of the human luteinizing hormone-choriogonadotropin receptor gene: Unusual promoter and 5' non-coding regions
28. Polymorphisms in the coding exons of the human luteinizing hormone receptor gene
29. Molecular genetic, biochemical, and clinical implications of gonadotropin receptor mutations
30. 47,XXY Klinefelter's syndrome with low FSH and LH levels and absence of Leydig cells
31. Klinefelter syndrome with hypogonadotropic hypogonadism and absence of Leydig cells
32. Dicentric chromosome Y associated with Leydig cell agenesis and sex reversal
33. Stimulation of the proliferation and differentiation of Leydig cell precursors after the destruction of existing Leydig cells with ethane dimethyl sulphonate (EDS) can take place in the absence of LH
34. Luteinizing hormone-dependent gene regulation in Leydig cells may be mediated by CCAAT/ enhancer-binding protein-β
35. Evidences for an allelic variant of the human LH/CG receptor rather than a gene duplication: Functional comparison of wild-type and variant receptors
36. Ethnic report on native Americans in South America and Mexico