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BMJ Case Reports 2017; doi:10.1136/bcr-2017-220045

Anosmia with hypogonadism: but NOT Kallmann syndrome

  1. Satishkumar Balasubramanian4
  1. 1 Department of Endocrinology, Diabetes & Metabolism, Sri Ramachandra University Medical College, Chennai, India
  2. 2 Endocrinology Department, Sri Ramachandra Medical College, Chennai, India
  3. 3 Endocrinology, Endocrine & Speciality Clinic, Chennai, India
  4. 4 Endocrinology, Diabetes and Metabolism, Sri Ramachandra University, Chennai, India
  1. Correspondence to Dr Shriraam Mahadevan, mshriraam{at}gmail.com
  • Accepted 3 April 2017
  • Published 17 April 2017

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, …

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