Paediatrics · Explanation & counselling

Chromosome result: girl not developing

Medium

10 min station · 2 min reading · Curtin Year 4

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J Z H V

2 min reading · 10 min station · reminders at 2 min

Instructions

You are a medical student on placement in the paediatric endocrine clinic. Your next patient is Ishani Raghavan, 14, back with her mother, Kavitha, for the results of tests arranged because she is short and has not started to develop. They have not been told the results yet.

  1. Take a focused history from Ishani and her mother

  2. Explain your diagnosis and management plan to the patient

  • You do not need to examine Ishani
  • You do not need to summarise your findings to the examiner

Growth record (last visit)

Height 141.8 cm, below the 3rd centile. Mid-parental target height about 161 cm.

Results from the last visit

FSH 68 IU/L (high; 1 to 8). LH 21 IU/L (high; 1 to 10). Oestradiol under 40 pmol/L (low; 70 to 500). Karyotype 45,X in all 30 cells counted (46,XX expected). Bone age 12 years 6 months. TSH 2.1 and free T4 14 (normal). Coeliac serology negative.

Results from the last visit

Results from the last visit
ItemValueReference range
FSH68 IU/L1-8 IU/L
LH21 IU/L1-10 IU/L
Oestradiol<40 pmol/L70-500 pmol/L
TSH2.1 mIU/L0.5-4.5 mIU/L
Free T414 pmol/L10-20 pmol/L
Coeliac serology (tTG-IgA, with normal total IgA)Negative-
Bone age (left hand X-ray)12 years 6 months (age 14)-
Karyotype (peripheral blood, 30 cells)45,X in all cells counted46,XX