PITUITARY HYPOPLASIA PRESENTING WITH HYPOPITUITARISM

A CASE REPORT

Abstract

INTRODUCTION/BACKGROUND
Hypopituitarism is a deficiency of one or more hormones secreted by the anterior or posterior pituitary gland. It is a rare condition, with a prevalence of 46 cases per 100,000 population. It can be caused by several conditions, but it is rarely caused by pituitary hypoplasia.

CASE
A 19-year-old female presented to the hospital with concerns of short stature and delayed puberty. She reported never having experienced menstruation and a lack of breast development. The patient denied headache and there was no reported history of hormonal abnormalities or previous medication use. Her intellectual abilities were noted to be well-developed.

On examination, the patient's height was 135 cm and her weight was 32 kg. Her genetic height potential was estimated to be between 142.5 and 159.5 cm. She exhibited no signs of puberty (Tanner stage I).

Laboratory results revealed: LH <0.09 mIU/mL, FSH 0.69 mIU/mL, estradiol <10 pg/mL, TSH 4.1 mIU/mL, FT4 5.52 pmol/L, IGF-1 21 ng/mL, and cortisol 1.8 µg/dL. Bone age was assessed as equivalent to a 13-year-old female, with an open epiphyseal plate. Gynecological ultrasound showed a small uterus measuring 5.47 x 2.33 cm. Brain MRI revealed pituitary hypoplasia (6.9 x 3.9 x 7.5 mm) with no other identified abnormalities.

Based on these findings, the patient was diagnosed with pituitary hypoplasia and hypopituitarism (hypogonadism, hypothyroidism, central hypothyroidism, adrenal insufficiency). Treatment was initiated with estradiol valerate 2 mg, levothyroxine 25 mcg, and hydrocortisone 20 mg. Within six months, the patient experienced menstruation and breast development.

CONCLUSION
We have treated a patient with hypopituitarism secondary to pituitary hypoplasia. We hypothesize that a genetic defect caused pituitary hypoplasia in this patient. The patient has had a positive outcome and continues to receive routine follow-up care at the hospital for hormone replacement therapy.