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45,X/46,XY Mosaicism Presenting With Isolated Unilateral Cryptorchidism and a Normal Blood Karyotype.
J Clin Endocrinol Metab. 2018 06 01; 103(6):2079-2082.JC

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 2-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, whereas 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 second centile, within the midparental 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 showed normal pubertal progression. However, from the age of 15 years, he had low normal testosterone, raised follicle-stimulating hormone, and reduction of inhibin B, possibly suggestive of declining testicular function. His final height was -2.24 standard deviation score (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.

Authors+Show Affiliations

Department of Endocrinology, Great Ormond Street Hospital for Children, London, United Kingdom. Section of Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Program, University College London Great Ormond Street Institute of Child Health, London, United Kingdom.Department of Endocrinology, Great Ormond Street Hospital for Children, London, United Kingdom. Section of Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Program, University College London Great Ormond Street Institute of Child Health, London, United Kingdom.Department of Endocrinology, Great Ormond Street Hospital for Children, London, United Kingdom. Section of Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Program, University College London Great Ormond Street Institute of Child Health, London, United Kingdom.Department of Endocrinology, Great Ormond Street Hospital for Children, London, United Kingdom. Section of Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Program, University College London Great Ormond Street Institute of Child Health, London, United Kingdom.Department of Endocrinology, Great Ormond Street Hospital for Children, London, United Kingdom. Section of Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Program, University College London Great Ormond Street Institute of Child Health, London, United Kingdom.

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

29618062

Citation

Morandi, Grazia, et al. "45,X/46,XY Mosaicism Presenting With Isolated Unilateral Cryptorchidism and a Normal Blood Karyotype." The Journal of Clinical Endocrinology and Metabolism, vol. 103, no. 6, 2018, pp. 2079-2082.
Morandi G, Cerbone M, Lamback EB, et al. 45,X/46,XY Mosaicism Presenting With Isolated Unilateral Cryptorchidism and a Normal Blood Karyotype. J Clin Endocrinol Metab. 2018;103(6):2079-2082.
Morandi, G., Cerbone, M., Lamback, E. B., Rapti, E., & Dattani, M. T. (2018). 45,X/46,XY Mosaicism Presenting With Isolated Unilateral Cryptorchidism and a Normal Blood Karyotype. The Journal of Clinical Endocrinology and Metabolism, 103(6), 2079-2082. https://doi.org/10.1210/jc.2017-02671
Morandi G, et al. 45,X/46,XY Mosaicism Presenting With Isolated Unilateral Cryptorchidism and a Normal Blood Karyotype. J Clin Endocrinol Metab. 2018 06 1;103(6):2079-2082. PubMed PMID: 29618062.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 45,X/46,XY Mosaicism Presenting With Isolated Unilateral Cryptorchidism and a Normal Blood Karyotype. AU - Morandi,Grazia, AU - Cerbone,Manuela, AU - Lamback,Elisa B, AU - Rapti,Eleni, AU - Dattani,Mehul T, PY - 2017/12/09/received PY - 2018/03/26/accepted PY - 2018/4/5/pubmed PY - 2019/1/1/medline PY - 2018/4/5/entrez SP - 2079 EP - 2082 JF - The Journal of clinical endocrinology and metabolism JO - J. Clin. Endocrinol. Metab. VL - 103 IS - 6 N2 - 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 2-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, whereas 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 second centile, within the midparental 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 showed normal pubertal progression. However, from the age of 15 years, he had low normal testosterone, raised follicle-stimulating hormone, and reduction of inhibin B, possibly suggestive of declining testicular function. His final height was -2.24 standard deviation score (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. SN - 1945-7197 UR - https://www.unboundmedicine.com/medline/citation/29618062/45X/46XY_Mosaicism_Presenting_With_Isolated_Unilateral_Cryptorchidism_and_a_Normal_Blood_Karyotype_ L2 - https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.2017-02671 DB - PRIME DP - Unbound Medicine ER -