Endocrine Abstracts

Introduction: Short stature is a common feature in Turner syndrome. It is caused by haplo-insufficiency of the SHOX gene. Growth hormone deficiency does not occur in this disorder as confirmed by the normal GH response to stimulation tests. However, few cases of coexisting GH deficiency and Turner syndrome have been reported. We herein describe two cases of GH deficiency in patient with Turner syndrome.

Observation 1: A 20-year-old patient was referred for delayed puberty. Physical examination showed a short stature with a height of 1 m38 (< – 4 s.d.), dysmorphic features and female external genital organs, with Tanner stage 3. Her bone age was inferior to 17 years. On hormonal investigations, she had a primary hypogonadism (elevated FSH and LH levels and a low estradiol level), a severe GH deficiency and a corticotropin deficiency. Genetic testing confirmed the diagnosis of Turner syndrome. The pituitary magnetic resonance imaging (MRI) was normal. The patient was put on hormone replacement therapy.

Observation 2: A 16-year-old patient was referred for delayed puberty. On physical examination, she had a body height of 1 m 37(< – 4 s.d.), multiples nevi and female external genital organs with Tanner stage 1. Her bone age was 9 years. She had a primary hypothyroidism, a primary hypogonadism, a severe GH deficiency and a corticotropin deficiency. Genetic testing confirmed the diagnosis of a classical Turner syndrome: 45 × 0. The pituitary MRI was normal. The patient was put on hormone replacement therapy.

Conclusion: These two cases highlight the necessity of GH investigations in patients with Turner syndrome and a severe short stature (body height < – 4 s.d.). In addition, GH deficiency testing should be performed in the presence of at least one deficiency in the hypothalamic-pituitary axis. GH treatment is recommended in Turner syndrome. However, there are no recognized treatment recommandations in case of coexisting GH deficiency.