Endocrine Abstracts

JOINT2541

We performed the retrospective analysis of 66 pediatric patients with NF1 hospitalized at the University Clinical Hospital in Wrocław in 2018-2024. The aim of the study was to assess the scale of endocrine problems in the analyzed group of patients. 22 patients (33.33%) were hospitalized in the Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases. These children were referred to the Clinic due to: short stature (8/22 patients - 36.36%), premature puberty (5/22 patients - 22.72%), rapid progression of puberty, primary amenorrhea and body weight deficiency, hyponatremia, hypernatremia, hypothyroidism, hypertension, obesity, as well as due to routine endocrinological assessment due to the underlying disease (2 patients - 9.09%). Hormonal disorders requiring treatment were found in 6/22 children (27.27%). GnRH-dependent precocious puberty was diagnosed in 5 of them, whereas multihormonal hypopituitarism and diabetes insipidus in one patient. In all patients with GnRH-dependent precocious puberty, CNS magnetic resonance imaging revealed pathological NF1 changes, including those affecting the optic pathway and the hypothalamic and pituitary region. Patients were included in the triptorelin treatment program at the average age of 7 years and constituted 4.5% of all patients remaining in the program in the studied years. Two boys came to the Clinic for the first time with advanced puberty (Tanner scale: 3/4 and 4 degrees), considered too progressed to achieve optimal efficacy of triptorelin therapy. Both of them presented clinical symptoms of NF1 from early childhood that allowed for the earlier diagnosis of NF1. Unfortunately, early signs of puberty were missed in both boys, leading to short stature as a consequence of delayed treatment.

Conclusion: 1. The analysis confirms the multidisciplinary nature of neurofibromatosis type 1, which requires vigilance and care from many specialists.

2. The most common endocrine disorder in children with NF1 is GnRH-dependent precocious puberty caused by nodular lesions affecting the optic pathway and the hypothalamus. Therefore, a group of patients with CNS lesions in these areas should also remain under constant care of an endocrinologist.

3. The basic, underestimated and often overlooked tools for monitoring the proper development of each patient (including a patient with NF1) are: the Tanner scale (for assessing the puberty status) and percentile charts (for observing the growth pattern).