Endocrine Abstracts

Introduction

Pituitary stalk interruption syndrome is an entity radiologically defined by the association of an absent or thin pituitary stalk, an ectopic posterior lobe and a hypoplasia or aplasia anterior lobe. It can manifest as a several of hormonal deficiencies. The circumstances of discovery are multiple. This case illustrates a pituitary stalk interruption syndrome revealed by a growth retardation.

Case presentation

An 11-year-old child consulted for a growth retardation. The diagnosis of complete growth hormone deficiency was retained. He was put on somatropin until the age of 18. The patient did not present a polyuria polydipsia syndrom. The examination found a height of 1 m 63 between –3 and –2 standard deviations, with a target height of 1 m 71. The external sexual organs were infantile masculine type, the penis was 6 cm, and testicles were lower size 2cm with a Tanner stage G1P2A1. His bone age was 13 years and 6 months with a chronological age of 19 years. Hormonal exploration showed a normal thyroid hormone assesment, intermediary cortisol level 240 mmol/l. He benefited from an insulin hypoglycemia test showing a cortisol peak at 394 nmol/l confirming corticosteroid insufficiency. Exploration of the gonadotropic axis showed low testosteronemia at 0.09 ng/ml (N: 0.5–5), normal FSH and LH levels at 2.32 and 0.72 miu/l respectively confirming a gonadotropic insufficiency. The patient was treated with hydrocortisone at a dose of 10 mg daily. Induction of puberty was initiated by testosterone enanthate at a dose of 62.5 mg in one monthly injection and then gradually increasing the dose to 250 mg per month. The evolution was marked by a clear improvement with a Tanner stage G2P3A3.

Conclusion

Pituitary stalk interruption syndrome is one of the etiologies of hypopituitarism. It is a congenital and progressive pathology. The earlier the diagnosis is made, the better the prognosis, especially in terms of growth, which has a significant psychological impact. Hence the importance of early diagnosis of this entity as well as regular monitoring of the pituitary gland assessment in order to treat any deficiency in time.