Short stature, primary amenorrhoea & skeletal deformities in a young girl

An 18 yr old girl† presented to the department of Endocrinology, All India Institute of Medical Sciences, New Delhi, India, in March 2019, with a history of poor height gain since early childhood and failure to attain menarche. She also complained of recurrent ear discharge and progressive hearing loss since childhood. Her developmental milestones were normal; however, she had poor scholastic performance resulting in drop out of school at an early age. On examination, she had severe short stature (height of 134 cm; −3.8 SDS), breast stage B2 development and absent axillary or pubic hair. Several Turner stigmata in the form of cubitus valgus, Madelung deformity, short neck, high-arched palate, epicanthal folds, multiple facial naevi, broad shield-like chest and bilateral short fourth metatarsals (Figs 1 and 2) were also noted. She did not have short metacarpals. There was no family history of diabetes mellitus, autoimmune thyroid disease or premature ovarian insufficiency. The biochemical evaluation revealed hypergonadotropic hypogonadism with follicle-stimulating hormone of 48.2 IU/L (N, follicular phase: 2.4-12.6 IU/L), luteinizing hormone of 14.4 IU/L (N, follicular phase: 3.5-12.5 IU/L) and oestradiol (E2) of 30.4 pmol/L (N, early follicular phase: 73.4-550.7 pmol/L). She was also detected to have autoimmune hypothyroidism with thyroxine of 87.5 nmol/L (N: 65.6-181.5 nmol/L), thyroid-stimulating hormone of 15.0 mIU/L (N: 0.27-4.2 mIU/L) and thyroid peroxidase antibody titres of >600 kIU/L (N: <34 kIU/L). A 30 metaphase karyotype revealed isochromosome involving the long arm of the X chromosome [46, X, iso(Xq)], suggestive of Turner syndrome. She had normal fasting plasma glucose (4.7 mmol/L, N: 3.9-5.6 mmol/L) and glycated haemoglobin (5.4%, N: <5.7%), negative serology for celiac disease and no congenital renal or cardiac anomalies. Otoscopic examination revealed bilateral congested tympanic membranes. Her bone age (Greulich and Pyle method) was delayed at 14 yr. She was started on levothyroxine 50 μg/day for hypothyroidism and oestradiol valerate 0.5 mg/day for induction of puberty with the plan for gradual uptitration of oestrogen dose and the eventual addition of progesterone for induction of withdrawal bleeding.

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Fig. 1

Clinical photograph showing increased carrying angle (normal: 10°-15°) at bilateral elbows, suggestive of cubitus valgus deformity (arrows) and bilateral short fourth metatarsals (arrows).

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Fig. 2

Clinical photograph showing bilateral Madelung deformity (left>right).

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Conflicts of Interest: None.