Congenital growth hormone deficiency associated with hypopituitarism: experience from the endocrinology department of hedi chaker university hospital in sfax

Hamdi Frikha; Mouna Elleuch; Nesrine Dhieb; Salah Dhoha Ben; Wajdi Sefi; Kacem Akid Faten Haj; Fatma Mnif; Nadia Charfi; Mouna Mnif; Mohamed Abid; Majdoub Nabila Rekik

doi:10.1530/endoabs.99.EP469

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Endocrine Abstracts (2024) 99 EP469 | DOI: 10.1530/endoabs.99.EP469

ECE2024 Eposter Presentations Pituitary and Neuroendocrinology (214 abstracts)

Congenital growth hormone deficiency associated with hypopituitarism: experience from the endocrinology department of hedi chaker university hospital in sfax

Hamdi Frikha ¹ , Mouna Elleuch ¹ , Nesrine Dhieb ¹ , Dhoha Ben Salah ¹ , Wajdi Sefi ¹ , Faten Haj Kacem Akid ¹ , Fatma Mnif ¹ , Nadia Charfi ¹ , Mouna Mnif ¹ , Mohamed Abid ¹ & Nabila Rekik Majdoub ¹

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¹Hedi Chaker University Hospital, Department of Endocrinology

Introduction: Congenital hypopituitarism is considered a study model to understand the mechanisms of development and the physiological functioning specific to the pituitary gland. Its exact prevalence is challenging to establish. In this report, we present the experience of the endocrinology department at Hedi Chaker University Hospital in Sfax regarding the diagnosis and management of patients with antehypopituitarism associated with growth hormone deficiency (GHD).

Methods: A retrospective descriptive and analytical study was conducted, collecting data from patients with antehypopituitarism and GHD who were followed at the endocrinology department of Hedi Chaker University Hospital in Sfax.

Results: We included 87 patients with antehypopituitarism and GHD. The median age at diagnosis in our cohort was 14 years, with a gender ratio of 1 female to 2 males. Growth projection on the growth curve indicated severe growth retardation of more than -3 standard deviations (SD) in 73.5% of cases. In 25.9% of cases, two or three pituitary axes were affected, while four axes were involved in 17.6% of patients. Finally, 10.6% of our patients had involvement of all antehypopituitary axes. Hypoplastic pituitary was the most frequent morphological anomaly, found in 48% of cases on pituitary imaging. In our study, a positive correlation was found between the early discovery of hypopituitarism and the presence of pituitary hypoplasia, as well as with the severity of growth retardation and the number of affected axes (P=0.009; 0.016; 0.02, respectively). Therapeutically, our study highlighted heterogeneity in the response to growth hormone treatment, with an average statural gain of 1.4±1.2 SD (0, +4 SD). The target height was reduced by an average of 17.4±14.8 cm in boys and 10.3±4.6 cm in girls. Molecular analysis revealed mutations in exon 2 of the ProP-1 gene in all familial cases and two sporadic cases with highly heterogeneous phenotypic expression.

Conclusion: These results are consistent with existing literature on antehypopituitarism with growth retardation. They highlight the importance of early diagnosis, clinical and genetic variability of the disease, and the variable response to growth hormone treatment. These findings contribute to a better understanding of GHD and can help optimize the clinical management of these patients. The mutations in exon 2 of the ProP-1 gene identified in all familial cases and two sporadic cases in our cohort emphasize the genetic complexity of isolated growth hormone deficiency.