Pediatr Radiol (2008) 38:688–690 DOI 10.1007/s00247-008-0749-5
CASE REPORT
Testicular microlithiasis in siblings: clinical implications Dimitrios Thomas & Elpis Vlachopapadopoulou & Vassilios Papadakis & Regina Sklavou & Kalliope Stefanaki & Sofia Polychronopoulou & Stefanos Michalacos
Received: 7 December 2007 / Accepted: 16 December 2007 / Published online: 2 February 2008 # Springer-Verlag 2008
Abstract Testicular microlithiasis is a relatively uncommon condition in children. It is characterized by the presence of microcalcifications within the testicular parenchyma. Although it is a benign finding, underlying diseases and other conditions must be ruled out because testicular microlithiasis has been found in association with both benign and malignant lesions in the testes and other tissues. We present two brothers with testicular microlithiasis, and highlight the prevalence, natural history, associated malignant conditions and followup recommendations of children diagnosed with testicular microlithiasis. Keywords Testis . Microlithiasis . Ultrasound . Children
D. Thomas Department of Endocrinology, Metabolism and Diabetes, “Metaxa” Memorial Anticancer Research Hospital, Piraeus, Greece D. Thomas : E. Vlachopapadopoulou (*) : S. Michalacos Department of Growth and Development, Children’s Hospital “P. & A. Kyriakou”, Mesogion 24, 15127 Athens, Greece e-mail:
[email protected] V. Papadakis : R. Sklavou : S. Polychronopoulou Department of Pediatric Hematology-Oncology, Children’s Hospital “Agia Sophia”, Athens, Greece K. Stefanaki Department of Pathology, Children’s Hospital “Agia Sophia”, Athens, Greece
Introduction Testicular microlithiasis (TM) is a relatively uncommon condition characterized by the presence of hyperechoic foci (microliths) less than 1–2 mm in diameter within the testicular parenchyma, usually found in patients referred for scrotal US for other reasons. Microcalcifications have been found mainly inside the seminiferous tubules in association with both benign and malignant lesions in the testes and other tissues [1]. Patients with incidentally discovered TM usually are further investigated with biochemical tumour markers, imaging studies, and possibly biopsies, and they are placed on long-term follow-up with physical examination and scrotal US. The simultaneous presence of TM in brothers is not well documented in the literature. Considering that the overall number of paediatric cases is limited in the majority of publications related to TM, we present two brothers with testicular microcalcifications and we discuss some issues concerning the prevalence, natural history, associated conditions and follow-up of children with TM.
Case reports Two brothers (age 5 years 9 months and 6 years 9 months), in excellent physical condition, were evaluated because of the presence of a hydrocele. The medical history was significant for unilateral cryptorchidism of the right testis in the older boy, for which an orchidopexy was performed at the age of 4 months. Physical examination was unremarkable, besides the presence of hydrocele. Their parents were not consanguineous. The physical attributes of the younger brother were height 107 cm, weight 23.6 kg, pubic Tanner stage I, and testicular volume 1 ml on both sides, and of the older brother
Pediatr Radiol (2008) 38:688–690
were height 116.5 cm, weight 21 kg, pubic Tanner stage I, and testicular volume 1 ml on both sides. Scrotal US revealed bilateral testicular microlithiasis and left-sided hydrocele in the older boy, and left testicular microlithiasis and right-sided hydrocele in the younger boy (Fig. 1). The following tests were carried out in both boys: full blood count, urinalysis, hormone profile (including serum thyroxine, triidothyronine, thyroid stimulating hormone, follicular stimulating hormone, luteinizing hormone, prolactin, testosterone, and dehydroepiandrosterone sulphate), calcium, phosphate, α-fetoprotein, β-hCG, chest radiography and karyotype. All results were within normal limits according to sex and age. The hydrocele was repaired in both brothers 1 month later. Surgical biopsies of both of the older boy’s testes and of his brother’s left testicle were also obtained. The streptavidin-biotin HRP immunohistochemical method was performed on paraffin-embedded sections for the detection of placental alkaline phosphatase (PLAP), c-kit/ CD117, D2-40, α-inhibin, calretinin, melan A, CD99, and keratin 8.18. Both biopsies showed prepubertal testicular parenchyma composed of tubules with prepubertal Sertoli cells and spermatogonia. Few Sertoli cells with clear cytoplasm were observed, while no Leydig cells were found in the interstitial stroma. Immunohistochemistry revealed the expected expression of α-inhibin, CD99, and D2-40, but was negative for calretinin, melan A, and keratin 8.18. There was no expression of PLAP and c-kit in the spermatogonia. The morphological and immunophenotypic features of both testicular biopsies were compatible with the boys’ ages. Moreover, there were no signs of intratubular germ cell or Sertoli cell neoplasia. At the time of this report both brothers had been followed for 19 months Fig. 1 Scrotal US. a, b Images from the older brother show many microliths (punctate hyperechoic foci
