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A girl aged 16 years presented with primary amenorrhoea and absent secondary sexual characteristics. She had arhinia at birth and had undergone reconstruction twice in her childhood. Family history was unremarkable. On examination, she had a partially reconstructed nose with patent left nare, absent nasal root, hypertelorism, midfacial hypoplasia and anosmia (figure 1A and B). Her height was 156 cm (50th percentile for ethnicity) with sexual maturity rating of Tanner stage 1. Investigations showed follicle-stimulating hormone, 0.02 (normal, …
Contributors ARA and SM were involved in diagnosis, management and manuscript preparation.
SB was involved in diagnosis and management of the patient.
Competing interests None declared.
Patient consent Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.
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