Association of Turner syndrome and GH deficiency.

I. Oueslati*^a (Dr), N. Bchir^a (Dr), K. Khiari^a (Pr), E. Elfeleh^a (Dr), N. Khessairi^a (Dr), N. Ben Abdallah^a (Pr)

^a Service de Médecine Interne A, unité d'Endocrinologie. Hôpital Charles Nicolle, Tunis, TUNISIE

* Ouesibtissem@gmail.com

Introduction

Turner syndrome (TS) represents one of the most common chromosomal abnormalities in females. It is associated with a wide spectrum of clinical features, such as gonadal dysgenesis and short stature. Short stature in TS is usually not attributed to growth hormone deficiency (GHD).

The aim of our study was to report 4 cases with TS and GHD.

Methodology: it’s a retrospective study including 4 patients with TS. GHD was confirmed by failure of GH to raise more than 10 ng/mL after L dopa stimulating test and insulin induced hypoglycemia test.

Results

All patients were referred to our department with a delayed puberty and short stature. The mean age at the diagnosis of TS was 18.5±2.4 years. Physical examination revealed dysmorphic syndrome in all patients. The mean height was 1.37±0.06 m (< -4 SD in 3 patients and between -2 and -3 SD in one patient). Bone age was delayed in all cases. Laboratory tests showed hypergonadotropic hypogonadism in four patients and primitive hypothyroidism in two patients. L dopa and insulin induced hypoglycemia tests revealed GHD in all cases (mean peak GH was 2.57±2.74 ng/ml and 0.68 ± 0.7 ng/ml respectively). Hormonal exploration confirmed corticotrophin deficiency in one patient and was normal in the other patients. Pituitary MRI was normal in all cases. Treatment with GH was initiated in two patients.

Conclusion

GHD is not a common finding in patients with TS. It should be considered only when the short stature is lower than that usually found in TS.

L’auteur n’a pas transmis de déclaration de conflit d’intérêt.