45,X/46,XY mosaicism presenting with isolated unilateral cryptorchidism and a normal blood karyotype.

45,X/46,XY mosaicism presenting with isolated unilateral cryptorchidism and a normal blood karyotype.

J Clin Endocrinol Metab. 2018 Mar 30;:

Authors: Morandi G, Cerbone M, Lamback EB, Rapti E, Dattani MT

Abstract
Context: 45,X/46,XY mosaicism is a disorder of sex development leading to abnormal gonadal development and to unpredictable genital phenotype, growth and pubertal development.
Case Description: A two year old male presented with a right impalpable testis. Blood karyotype was 46,XY. A laparoscopy performed for right orchidopexy revealed a right streak gonad with Mullerian structures, while on the left side a normal descended testis was present. The karyotype of the removed gonad was 45,X/46,XY. The child grew along the 2nd centile, within the mid parental height (MPH) range, until the time of puberty, when linear growth worsened due to a lack of a pubertal growth spurt and growth hormone (GH) therapy was initiated. He developed spontaneous puberty (13 years of age) and he showed normal pubertal progression. However, from the age of 15 years, he had low normal testosterone, raised FSH and reduction of Inhibin B, possibly suggestive of declining testicular function. His final height was -2.24 SDS (-2.4 SDS at GH start; MPH -1.6 SDS).
Conclusions: Our case describes a mild male phenotype associated with 45,X/46,XY mosaicism characterized by unilateral cryptorchidism, spontaneous onset of puberty and normal blood karyotype. The case illustrates the difficulties inherent in making a diagnosis of 45,X/46,XY mosaicism when there is no genital ambiguity, and makes the point that growth and testicular impairment may occur, mostly manifesting during adolescence. An early diagnosis is crucial to initiate careful monitoring for growth and pubertal disorders, increased tumor risk and fertility issues commonly seen in these children.

PMID: 29618062 [PubMed - as supplied by publisher]

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