Anosmia with hypogonadism: but NOT Kallmann syndrome

Description

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, 2.5–10.2 mIU/mL), luteinising hormone, 0.01 (normal, 1.9–12.5 mIU/mL)and 17-β estradiol, 8 (normal, 27–143 pg/mL) suggestive of hypogonadotrophic hypogonadism (HH). Her thyroid function and prolactin were normal. MRI of the brain showed normal-sized pituitary, absent olfactory bulbs with aplastic (yellow arrow) and hypoplastic olfactory sulci (red arrow head) on the right and left side, respectively (figure 1C). With the above findings, a diagnosis of HH with arhinia was made. She...

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