Severe hypoglycemia in a 5-year-old boy with hyperprolinemia and growth hormone deficiency

Ilektra Toulia; Aikaterini Theodosiadi; Maria Grammatikopoulou; Parthena Savvidou; Fotini Adamidou; Danai Chourmouzi; Athanasios Evangeliou; Dimitrios Goulis; Kyriaki Tsiroukidou

P3-204

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ESPE Abstracts (2024) 98 P3-204

ESPE2024 Poster Category 3 Pituitary, Neuroendocrinology and Puberty (36 abstracts)

Severe hypoglycemia in a 5-year-old boy with hyperprolinemia and growth hormone deficiency

Ilektra Toulia ¹ , Aikaterini Theodosiadi ¹ , Maria Grammatikopoulou ² , Parthena Savvidou ¹ , Fotini Adamidou ³ , Danai Chourmouzi ⁴ , Athanasios Evangeliou ⁵ , Dimitrios Goulis ⁶ & Kyriaki Tsiroukidou ⁷

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¹Pediatric Endocrine Unit, 3rd Department of Pediatrics, Aristotle University of Thessaloniki, Hippokration General Hospital of Thessaloniki, Thessaloniki, Greece. ²Unit of Immunonutrition and Clinical Nutrition, Department of Rheumatology and Clinical Immunology, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece. ³Department of Endocrinology, Diabetes and Metabolism, Hippokration General Hospital of Thessaloniki, Thessaloniki, Greece. ⁴Department of Radiology, Interbalkan Medical Center, Thessaloniki, Greece. ⁵Department of Pediatrics, Aristotle University of Thessaloniki, Medical School, Thessaloniki, Greece. ⁶Unit of Reproductive Endocrinology, 1st Department of Obstetrics and Gynecology, Aristotle University of Thessaloniki, Thessaloniki, Greece. ⁷Pediatric Endocrine Unit, 3rd Department of Pediatrics, Hippokration General Hospital of Thessaloniki, Aristotle University of Thessaloniki, Thessaloniki, Greece

Background: Hyperprolinemia is a rare autosomal recessive disorder with two distinct types: I (HPI) and II (HPII). The clinical presentation varies widely, with some individuals remaining asymptomatic and others exhibiting neurological, renal or auditory defects and seizures. Pituitary Stalk Interruption Syndrome (PSIS) is a rare congenital pituitary defect, characterized by a thin or absent pituitary stalk, hypoplasia of the adenohypophysis, and ectopic neurohypophysis, including a wide spectrum of clinical phenotypes and pituitary hormone deficiencies.

Objective: To present the management of rare case of a 5-year old boy with HPII and PSIS.

Case presentation: A 5-year and 6/12-month-old boy presented to the Endocrine Unit for a thyroid function assessment due to hypothyroidism. His medical history included an undescended testicle surgery, hypospadias and a diagnosis of HPII at the age of 2 years, during an investigation for seizure episodes. Clinically, the boy exhibited attention deficit hyperactivity disorder (ADHD) along with a reduction in growth velocity (1.6 cm/year). Hematological and biochemical analyses were within the reference range. Hormone profiling revealed lower-than-expected insulin-like growth factor-1 (IGF-1) concentrations, prompting a growth hormone (GH) stimulation test, which, in turn, revealed GH deficiency. Brain magnetic resonance imaging (MRI) showed features consistent with Pituitary Stalk Interruption Syndrome (PSIS). Noteworthy is the occurrence of severe hypoglycemia during the evaluation, leading to hospitalization, eventually attributed to GH deficiency. Following the exogenous administration of GH, the boy exhibited an increase in growth velocity, with no adverse events over the follow-up period.

Conclusion: Frequent and accurate body measurements are crucial for the diagnosis of a reduced growth velocity. Severe hypoglycemia accompanied by a low growth velocity poses a diagnostic challenge for the clinical pediatrician. To our knowledge, our patient was the first case presenting hyperprolinemia in combination with PSIS, in current literature.