A clinico-genetic investigation of Leydig cell hypoplasia

We report on a kindred including a patient (46,XY) with typical manifestations of Leydig cell hypoplasia who was born to parents who were first cousins. A sister had secondary amenorrhea possibly due to primary ovarian dysfunction. Analysis of six pedigrees fits to a male‐limited autosomal recessive...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	American journal of medical genetics 1987-02, Vol.26 (2), p.337-344
Hauptverfasser:	Saldanha, P. H., Arnhold, I. J. P., Mendonça, B. B., Bloise, W., Toledo, S. P. A., Opitz, John M., Reynolds, James F.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adrenal Glands - physiopathology Adult Biological and medical sciences Disorders of Sex Development - genetics Disorders of Sex Development - pathology Disorders of Sex Development - physiopathology Female gonadotropin receptors Gynecology. Andrology. Obstetrics Humans Karyotyping Leydig cell hypoplasia Leydig Cells - pathology Male Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance male pseudohermaphroditism male-limited autosomal recessive inheritance Medical sciences Pedigree phenotypic expressivity population genetics segregation ratios Testis - physiopathology
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Beschreibung
Zusammenfassung:	We report on a kindred including a patient (46,XY) with typical manifestations of Leydig cell hypoplasia who was born to parents who were first cousins. A sister had secondary amenorrhea possibly due to primary ovarian dysfunction. Analysis of six pedigrees fits to a male‐limited autosomal recessive pattern of inheritance; its implication for the mutational dynamics in the populations is evaluated.
ISSN:	0148-7299 1096-8628
DOI:	10.1002/ajmg.1320260212