PITFALLS IN THE

1
DIAGNOSIS
1
AND1 TREATMENT
1,2
WITH GH IN SHORT
1,2
STATURE
1,2
Bianca Chiriac , Andreea Rosu , Georgiana Neagu , Letitia Leustean , Maria- Christina Ungureanu , Cristina Preda
1.Emergency Hospital “St. Spiridon”, Endocrinology Clinic, Iași, Romania;
2. University of Medicine and Pharmacy “Gr. T. Popa”, Iași, Romania ;
Introduction: Neurofibromatosis type 1 is the most common type of NF and is an autosomal genetic disorder caused by NF1 gene mutations. Empty sella is a
rather frequent neuroradiological finding in the general population and was demonstrated that the small anterior pituitary size reflects loss of neurofibromin
expression in the hypothalamus, leading to reduce growth releasing hormone (GHRH), pituitary growth hormone (GH) and insulin- like growth factor 1 ( IGF1)
production. Considering NF1 may present with short stature due to growth hormone deficiency, all children with short stature combined with café au lait spots
should be screened for NF1, which may assist the clinical diagnosis and the genetic counseling.
First presentation – 8 years Case Report Last presentation- 14 years
Physical examination Physical examination Imagistic investigations
• T= 114 cm; - 3 SD • T= 153 cm; - 1.2 SD • bone age consistent with chronological
• G=18 kg; BMI= 13 kg/m2 • G= 43 kg; BMI=18.4 kg/m2 age
• P1 G1 Tanner stage • P4 G4 Tanner stage • empty sella at pituitary MRI
• > 20 spots café au lait • > 20 bigger spots café au lait
• iris Lisch nodules • iris Lisch nodules
Hormonal results Imagistic investigations Hormonal results
• low IGF1 : 57.5 ng/ml • delayed bone age • normalized IGF1 : 420
• peak GH response < 7 (4years) ng/ml
ng/ml following insulin • empty sella at pituitary •TSH= 4.9 uUI/ml; FT4= 0.7
stimulation test MRI ng//dl
• TSH= 3.01 uUI/ml; Genetic tests • ACTH = 14 pg/ml;
FT4= 1.4 ng/dl P245 Microdeletion Cortisol = 8.95 ug/dl
• ACTH = 21 pg/ml; Syndromes type 1 -normal • LH= 5.05 mUI/ml, FSH= Treatment
Cortisol = 18.6 ug/dl 4.28 mUI/ml, Testosteron= • Omnitrope 1.3 mg/zi
• LH= 2.05 mUI/ml; 21.1 mmol/l • Euthyrox 25 ug/zi
Treatment
FSH= 3.37 mUI/ml, References: 1.Parichehr G., Zahra Saheri and FarimahSardari, Neurofibromatosis type 1 ( von Recklinghausen’s disease):
• Omnitrope 0.6 mg/zi A family case report and literature review Dent Res J. 2012 Jul-Aug 9 (4): 483-488.
Testosteron= 1.23 ng/dl 2.Balasz H., Tu-Hsueh Yeh, Da Yong Lee, Ryan J. Emnett, Jia Li, Neurofibromin regulates somatic growth through the
Conclusion:. This case is interesting due to the initial suspicion of neurofibromatosis hypothalamic-pituitary axis. Hum Mol Genet.2008 Oct 1; 17 (19):2956-2966.
3.Noonan JA., Kappelgaard AM. The efficacy and safety of growth hormone therapy in children with Noonan Syndrome: a
which was excluded upon the laboratory workup. Evaluation of GH secretion in children review of the evidence. Horm Res Paediatr 2015; 83 157-166. Epub 2014 Dec 10.
4.Lorenzo I., Gianluca T., Maria ES., Flavia N., Claudia G. and Stefano Z. Long- term safety and efficacy of Omnitrope, a
NF1 and short stature, in the absence of other identifiable causes of short stature, is somatropin biosimilar, children requiring growth hormone treatment: Italian interim analysis of the PATRO Children study,
Italian Journal of Pediatrics (2016): 5-7.
necessary beacause GH therapy may significantly improve their gowth rate. The pituitary 5.Eleni M., Maria H., Christina K. Partial empty sella syndrome, GH deficiency and transient central adrenal insufficiency
in a patient with NF1.Endocrine 69, 377-385 (2020)