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Comparison of bone mineral density and body proportions between women with complete androgen insensitivity syndrome and women with gonadal dysgenesis

T Han, Endocrinology, University College London Hospitals, London, United Kingdom
G Deepti, Endocrinology, University College London Hospitals, London, United Kingdom
S Trikudanathan, Endocrinology, University College London Hospitals, London, United Kingdom
S Creighton, Endocrinology, University College London Hospitals, London, United Kingdom
G Conway, Endocrinology, University College London Hospitals, London, United Kingdom

Correspondence: Thang Han, Email: t.s.han{at}doctors.org.uk

Abstract

Objectives: To compare BMD and body proportions between women with complete androgen insensitivity syndrome (CAIS) and women with gonadal dysgenesis (GD).

Setting: Adult DSD and POF Clinics (UCLH).

Design: Cross-sectional study of women aged 17-58 years with varying degrees of exposure to sex hormones sex chromosomes. 46 had CAIS, 18 had GD and 46XY [GD(XY)], and 25 had GD and 46,XX [GD(XX)]. Body proportions were analysed.

Outcomes: Oestrogen therapy, karyotype, anthropometry and BMD.

Results: Height differed between groups (F ratio 5.2, P=0.007), with GD(XX) women being shortest (mean+/-SD: 1.66 +/-0.10 m), GD(XY) women tallest (1.74 +/-0.09m) and in between were CAIS women (1.70 +/-0.07 m). Delayed gonadectomy resulted in taller stature in CAIS women (P=0.011). The ratio of lower to upper body length in GD(XY) women was significantly (P=0.001) greater than that of CAIS women. Logistic regression analysis (age, height adjusted ) showed that among women with XY karyotype, GD(XY) were 5.2 times (95% CI: 1.3-20.1, P=0.018) more likely than CAIS women to have a low hip BMD.

Conclusions: Taller stature in late gonadectomised CAIS women suggests oestrogen deficiency in these women prior to gonadectomy. Increased lower body to upper body ratio in GD(XY) women compared to the other groups implies that these subjects have the greatest degree of oestrogen deficiency in puberty. Androgen rather than sex chromosomes may play an important role in cortical bone mineralisation in CAIS women, probably via ER- either directly or via aromatisation during critical periods of growth prior to gonadectomy.