January - March 2025, Volume 21, Issue 1

Singin B, Donbaloglu Z, Barsal Cetiner E, Aydin Behram B, Parlak M, Tuhan H

Concurrent Occurrence of Neurofibromatosis Type 1 and Turner Syndrome: A Pediatric Case Report with Comprehensive Literature Review

Acta Endo (Buc) 2025, 21 (1): 110-115
doi: 10.4183/aeb.2025.110

Introduction. Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that typically presents in childhood and involves multiple organ systems. Turner syndrome (TS) is a chromosomal condition resulting from complete or partial loss of one X chromosome. Both disorders can independently cause short stature and pubertal delay. Case Report. We present a 9-year-old girl diagnosed with NF1 at age 6, based on widespread café-aulait macules and a positive family history. She was referred to our pediatric endocrinology clinic for evaluation of severe short stature. Physical examination revealed TS stigmata, including height SDS: -4.07, cubitus valgus, webbed neck, low posterior hairline, and widely spaced nipples. Karyotype analysis confirmed mosaic TS: 45,X[12]/46,X,del(X) (p11.2)[18]. Cranial magnetic resonance imaging revealed hamartomatous lesions, an empty sella, and an optic pathway glioma, for which she had received chemotherapy. Laboratory findings were consistent with hypergonadotropic hypogonadism. Estrogen replacement therapy was initiated; however, recombinant human growth hormone treatment was declined by the family after counseling. Conclusions. This co-occurrence is exceedingly rare, with only a few pediatric cases having been reported in the literature. This dual diagnosis poses diagnostic and therapeutic challenges and necessitates a personalized approach to growth assessment, pubertal induction, and long-term tumor surveillance in pediatric endocrine care.

Keywords: neurofibromatosis type 1, Turner syndrome, short stature, mosaic karyotype, hypergonadotropic hypogonadism, optic glioma.

Correspondence: Berna Singin MD, Akdeniz University, Pinarbaso Mahallesi Dumlupinar Bulvari Akdeniz Universitesi Hastanesi, Antalya, 07070, Turkey, E-mail: bernasingin@gmail.com