Gonadal Dysgenesis: Associations Between Clinical Features and Sex of Rearing

January 1997 in “ Endocrine Journal ”

Fergus Cameron, Joseph Montalto, EDWYN A. BYRT, Andrew Sinclair, Garry L. Warne

gonadal dysgenesis endocrine function gonadal morphology external genitalia testosterone gonadal biopsy

TLDR Gonadal biopsy is the best method to diagnose gonadal dysgenesis.

This study retrospectively analyzed 22 patients with gonadal dysgenesis (GD) treated between 1964 and 1994 to examine the relationship between clinical features and the decision on sex of rearing. The study found no significant correlations between internal or external genital phenotype, endocrine function, and gonadal morphology. However, there was a significant association between sex of rearing and external genitalia (P = 0.03). Patients with GD had significantly lower stimulated/basal testosterone levels compared to 43 control patients (P = 0.0001). The study concluded that due to the overlapping clinical features of GD, gonadal biopsy should be the preferred method for defining pathology.

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Gonadal Dysgenesis: Associations Between Clinical Features and Sex of Rearing

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research Plasma C19 Steroid Sulfate Levels and Indices of Androgen Bioavailability in Female Pattern Androgenic Alopecia

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