ESPE Abstracts (2018) 89 P-P2-300

Somatostatin Experiment in Prohormone Convertase Deficiency

Ödül Eğritaş, Aylin Kılınç Uğurlu, Esra Döğer, Emine Demet Akbaş, Aysun Bideci, Buket Dalgıç, Orhun Çamurdan & Peyami Cinaz


Gazi University, Ankara, Turkey


Introduction: Prohormone convertase (PC) is a calcium-dependent serine endoprotease. PC 1/3 is responsible for converting hormones and neuropeptitids which has role on energy homeostasis, food intake,glucose metabolism (a-MSH, CART, NPY, AgRP, Orexin, Hypocretin, Ghrelin, insulin, cholecystokinin, GLP-1, GHRH, GnRH, ACTH, TRH) from proforms to active form. PC 1/3 deficiency’s clinical signs are diarrhea that started in the newborn period, obesity, hypoglycemia, multiple pituitary hormone insufficiency in the infant stage is observed.

Case: A 4-month-old male patient was admitted to our hospital with diarrhea, dehydration, metabolic acidosis. It was learnt that the diarrhea began when he was 12 days old. The patient was consulted to our department because he had hypoglycemia while receiving intravenous fluid and total parenteral nutrition therapy. In the family history of the patient, the mother and father were first degree cousins. In his physical examination his weight was: 4590 g (−2.93 SD), height: 58.5 cm (−2.13 SD), BMI: 13.1 kg/m2 (−2.78 SD), blood pressure: 55/pulse, thyroid stage 0, tanner stage 1, penis length 2 cm (<10 p), calibration was fine. While the patient’s serum glucose level was 44 mg/dl, blood ketone negative, cortisol and insulin levels were normal but growth hormone was detected to be low. As a result of the laboratory (Table 1), central hypothyroidism was detected and LT4 therapy was initiated. The patient’s proinsulin: 1300 (3–20 pmol/L), Insulin: 12.7 (2.6–25 uIU/mL) were detected. In the genetic analysis of the patient who was diagnosed with Prohormone convertase deficiency, a new mutation of IVS4-2A> G (C.544-2A> G) homozygote was detected. Central hypothyroidism, central adrenal insufficiency and diabetes insipitus were included in the follow up observation of the patient. Somatostatin therapy was started after the catheter was removed from the patient with hypoglycemia due to catheter infection. The patient’s hypoglycemia was put under control with somatostatin therapy.

Table 1 Laboratory values of Prohormone Convertase Deficiency.
fT40.660.92–1.99 ng/dl
TSH4.370.73–8.35 uIU
ACTH12.90–46 pg/ml
Cortisol16.26.2–19.4 ug/dl
FSH1.850.16–4.1 IU/L
LH<0.10.02–0.3 IU/L
T. Testosteron<0.0250.003–0.010 ng/mL

Conclusion: Hypoglycemia due to proinsulin elevation is seen in cases with Prohormone convertase 1/3 deficiency. Although there are cases of postprandial hypoglycemia in the literature, the corresponding treatment is not shared. Our case hypoglycaemia was prevented by somatostatin therapy. This case is shared because of a new mutation being identified in Prohormone Convertase Deficiency and the first somatostatin experience in the treatment of hypoglycemia.

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