ESPE Abstracts

Background: Multiple anterior pituitary hormone deficiency (MPHD) may present in the newborn period or in early infancy with hypoglycemia, prolonged cholestatic jaundice micropenis, undescended testes due to GH, ACTH, and LH deficiency. Central hypothyroidism is becoming manifest later, less severe than primary hypothyroidism, usually without intellectual impairment. A male patient was admitted to our clinic with severe short stature at the age of 2 years, born with normal length and weight, from the nonconsanguine healthy parents. The first gestation of his mother was unremarkable, delivery by cesarean section due to breech presentation. Newborn had a small but not micropenis, the location of testis at that time is unknown. Prolonged jaundice, constipation, and failure to thrive were developed soon after birth. Hormonal and biochemical investigations indicated severe anemia and signs of central hypothyroidism. The neonate was treated with by blood transfusion and later by L-Thyroxine (L-T₄). Psychomotor development of the patient improved under the treatment, but linear growth decelerated progressively.

Objective: Typical signs of GH- and IGF-deficiency: doll-like appearance, large neurocranium, frontal prominence, small mid-face, deep nasal bridge, high-pitched voice, undescended testes, small penis, and severe retardation of growth: height SDS (−5.13 SDS), retarded bone age, global developmental delay. Severe GH deficiency was confirmed with low basal IGF1 and IGFPB3 and low GH in arginine stimulation test. Head MRI confirmed anterior pituitary hypoplasia. Basal level of cortisol in blood and free cortisol in 24 h urine were normal, to perform ACTH test was not possible, ultrasound showed thyroid hypoplasia. Further genetic investigation is planned. Treatment with GH (in addition to L-T₄) was initiated. Height SDS was increased from −6.94 to −4.51 SDS during the first year of treatment. Surgery (orchydopexy) was done after unsuccessful treatment of cryptorchidism with hGH.

Conclusion: Clinical signs and severity of connatal hypopituitarism depends on the number and on the quality of hormonal failure. Early recognition is important for correction of auxological and mental retardation.