Abstract
Mucopolysaccharidosis type IH (MPS IH) is a rare autosomal recessive lysosomal storage disorder. Haematopoietic stem cell transplantation (HSCT) has been proposed for the treatment of MPS IH patients and offers the possibility to grow into their adulthood. Precocious puberty has been described in few MPS patients. We report, to the best of our knowledge and for the first time, the initiation of the first waves of spermatogenesis fortuitously observed in seminiferous tubules of a pre-pubertal 19-month-old boy, affected by MPS IH and who did not present any clinical signs of precocious puberty. This patient benefited from testicular tissue cryopreservation before HSCT. Seminiferous tubule size, germ cell differentiation and Sertoli cell expression of androgen receptor and anti-müllerian hormone corresponded to the pattern observed in a pubertal boy. The Hurler syndrome may be responsible for the precocious initiation of spermatogenesis. A specific follow-up during childhood may be useful to confirm if such abnormal testis development is common in young boys with MPS IH and if it may lead to precocious onset of puberty in survivors despite HSCT. Furthermore, we have observed that Sertoli cell maturation (up-regulation of AR expression, down-regulation of AMH expression) occurred before the clinical signs of puberty and before the increase of testosterone plasmatic level.
Highlights
Hurler syndrome (HS), or mucopolysaccharidosis type Mucopolysaccharidose de type IH (IH) (MPS IH), is a rare autosomal recessive lysosomal storage disorder, due to α-L-iduronidase activity deficiency, enzyme required for the breakdown of the glycosaminoglycans (GAG) heparan and dermatan sulfates [1]
For the first time and to the best of our knowledge, the fortuitous observation of precocious initiation of the first waves of spermatogenesis in a prepubertal 19-month-old boy with mucopolysaccharidosis type IH (MPS IH) who underwent testicular tissue cryobanking before haematopoietic stem cell transplantation (HSCT), in order to preserve his future fertility
Sertoli cell maturity was qualitatively assessed as follows: (i) following Anti-Müllerian Hormone (AMH) labelling, the Sertoli cells were considered to be infantile for complete intratubular area staining, intermediate for partial staining and in postpubertal state for negative staining, (ii) following Androgen Receptor (AR) labelling, the Sertoli cells were considered to be in an infantile state if no staining was observed, in an intermediate state if a cytoplasmic staining was detected and in post-pubertal state if intense Sertoli cell nuclear staining was observed, Results The tubule diameter increased with age in controls and was comprised between the values observed in the 12 and 17-year-old controls, in our HS patient (Figures 1 and 2A1, B1, cells of 1-year (C1), D1 and E1)
Summary
Hurler syndrome (HS), or mucopolysaccharidosis type IH (MPS IH), is a rare autosomal recessive lysosomal storage disorder, due to α-L-iduronidase activity deficiency, enzyme required for the breakdown of the glycosaminoglycans (GAG) heparan and dermatan sulfates [1]. MPS IH clinical phenotype is due to an excessive accumulation of GAG in lysosomes of affected organs. Central precocious puberty (CPP) [7] has been exceptionally described in patients with type IH or IIIA MPS [8,9,10] and central nervous system organic lesions are frequently observed within this context [11]. For the first time and to the best of our knowledge, the fortuitous observation of precocious initiation of the first waves of spermatogenesis in a prepubertal 19-month-old boy with MPS IH who underwent testicular tissue cryobanking before HSCT, in order to preserve his future fertility. Spermatogenesis was compared with data obtained in four boys, aged between 1 and 17 years, who cryopreserved testicular tissue within the context of non-malignant disease
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