Endocrine Abstracts (2013) 33 P52 | DOI: 10.1530/endoabs.33.P52

46,XX pure gonadal dysgenesis with tall stature due to an Xq21.2 deletion

Vidya K Narayanan1, John Tolmie2 & Malcolm Donaldson3

1Department of Paediatric Endocrinology and Diabetes, Birmingham Children’s Hospital, Birmingham, UK; 2West of Scotland Clinical Genetics Service, Glasgow, UK; 3School of Medicine, Glasgow University, Glasgow, UK.

Introduction: 46,XX gonadal dysgenesis without the phenotype of Turner’s syndrome is described as ‘pure’ and is not usually associated with other anomalies with the exception of the rare Perrault syndrome (46,XX-GD with sensori-neural deafness). We describe a girl in whom tall stature was a dominant feature.

Case report: A girl was referred aged 15.6 years with primary amenorrhoea and slim build. Examination showed height 172.5 cm (+1.56 S.D.) (midparental height +0.1 SDS), bone age 13.1 years, weight 53.75 kg (−0.13 S.D.), Tanner stage B1P4A1, lax joints with subluxatable right hip. Investigations showed FSH 119 U/l, LH 33.7 U/l, AMH <4 pmol/l, pre-pubertal cylindrical uterus on ultrasound measuring 3.75 cm with small areas of mixed echogenicity in both adnexae consistent with ovarian dysgenesis. Puberty was induced with low dose ethinylestradiol and compliance was variable. At the time of adult transfer aged 19.5 years the girl measured 182.8 cm (+3.17 S.D.), weight 66.2 kg (+0.9 S.D.), Tanner stage B4P5A2. Genetic study showed a Xq21.2 microdeletion in one X chromosome in the girl but in neither parent.

Conclusion: The tall stature in our patient is not in keeping with parental heights and out of proportion to the compliance difficulties with estrogen treatment. We speculate that the Xq21.2 deletion has affected genes influencing not only ovarian genesis but also growth suppression.

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