A rare case of dermoid cyst as a cause of short stature, precocious puberty, optic nerve hypoplasia, and hypopituitarism

R. Kacorzyk^a (Dr), A. Boguslawska*^a (Dr), A. Hubalewska-Dydejczyk^a (Prof), A. Gilis-Januszewska^a (Prof)

^a Chair and Department of Endocrinology, Jagiellonian University, Medical College, Cracow, Poland, Cracow, POLAND

* boguslawskaania@gmail.com

Hypopituitarism, a deficiency of one or more of the hormones produced by the pituitary gland, is a rare disorder. It can be congenital or acquired. We present a 19-year-old female, who presented with primary amenorrhea and short stature.

Despite growth delay, the diagnostic process started at the age of 18. Because of the lack of growth charts, it was impossible to establish when the growth delay occurred. The birth weight/length was normal. There is a history of early childhood impairment of vision in the right eye, however, no medical records are available.

At presentation, the patient had short stature (145 cm; midparental height (MPH) = 158.5 cm), normal body mass index (19.5), complete lack of axillar and pubic hair, and adult size breast (Tanner V). In a gynecological examination, no pathologies were detected. The patient’s karyotype was normal. Based on laboratory outcomes multihormonal pituitary insufficiency (adrenal, thyroid, and gonadal axis) was diagnosed, with mildly elevated prolactin concentration and very low insulin-like growth factor 1. The results of insulin hypoglycemia test confirmed severe growth hormone (GH) deficiency. Additionally, during insulin test, very good adaptation to low glucose concentrations was noted which may indicate that the patient experienced many unaware hypoglycemic episodes in the past. The magnetic resonance imaging of the pituitary gland revealed a lesion suspected of the dermoid cyst and right optic nerve hypoplasia. PROP1 mutation is under investigation. Densitometry revealed osteoporosis. Bone age assessment revealed advanced bone age compatible with chronological age, therefore growth promotion on growth hormone therapy is limited.

The patient received appropriate hormonal supplementation (hydrocortisone and levothyroxine) and is being qualified for growth hormone therapy.

Our case report highlights the importance of early diagnosis and treatment of hypopituitarism Dermoid cyst could be a rare cause of short stature, precocious puberty, optic nerve hypoplasia, and hypopituitarism

The author has declared no conflict of interest.