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Rossella Mazzilli Andrology Unit, Department of Clinical and Molecular Medicine, Sant'Andrea Hospital, University of Rome “Sapienza”, Via di Grottarossa 103500189, Rome, Italy

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Michele Delfino Andrology Unit, Department of Clinical and Molecular Medicine, Sant'Andrea Hospital, University of Rome “Sapienza”, Via di Grottarossa 103500189, Rome, Italy

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Jlenia Elia Andrology Unit, Department of Clinical and Molecular Medicine, Sant'Andrea Hospital, University of Rome “Sapienza”, Via di Grottarossa 103500189, Rome, Italy

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Francesco Benedetti Andrology Unit, Department of Clinical and Molecular Medicine, Sant'Andrea Hospital, University of Rome “Sapienza”, Via di Grottarossa 103500189, Rome, Italy

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Laura Alesi Genetics Unit, Department of Clinical and Molecular Medicine, Sant'Andrea Hospital, University of Rome “Sapienza”, Via di Grottarossa 103500189, Rome, Italy

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Luciana Chessa Genetics Unit, Department of Clinical and Molecular Medicine, Sant'Andrea Hospital, University of Rome “Sapienza”, Via di Grottarossa 103500189, Rome, Italy

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Fernando Mazzilli Andrology Unit, Department of Clinical and Molecular Medicine, Sant'Andrea Hospital, University of Rome “Sapienza”, Via di Grottarossa 103500189, Rome, Italy

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Summary

We report the case of a 19-year-old boy, presenting several congenital malformations (facial dysmorphisms, cardiac and musculoskeletal abnormalities), mental retardation, recurrent respiratory infections during growth and delayed puberty. Although previously hospitalised in other medical centres, only psychological support had been recommended for this patient. In our department, genetic, biochemical/hormonal and ultrasound examinations were undertaken. The karyotype was 49,XXXXY, a rare aneuploidy with an incidence of 1/85 000–100 000, characterised by the presence of three extra X chromosomes in phenotypically male subjects. The hormonal/biochemical profile showed hypergonadotropic hypogonadism, insulin resistance and vitamin D deficiency. The patient was then treated with testosterone replacement therapy. After 12 months of treatment, we observed the normalisation of testosterone levels. There was also an increase in pubic hair growth, testicular volume and penis size, weight loss, homeostatic model assessment index reduction and the normalisation of vitamin D values. Moreover, the patient showed greater interaction with the social environment and context.

Learning points

  • In cases of plurimalformative syndrome, cognitive impairment, recurrent infections during growth and, primarily, delayed puberty, it is necessary to ascertain as soon as possible whether the patient is suffering from hypogonadism or metabolic disorders due to genetic causes. In our case, the diagnosis of hypogonadism, and then of 49,XXXXY syndrome, was unfortunately made only at the age of 19 years.

  • The testosterone replacement treatment, even though delayed, induced positive effects on: i) development of the reproductive system, ii) regulation of the metabolic profile and iii) interaction with the social environment and context.

  • However, earlier and timely hormonal replacement treatment could probably have improved the quality of life of this subject and his family.

Taxonomy:
Clinical Overview, Gland/Organ, Testes, Topic, Andrology, Hormone, Testosterone, Condition/ Syndrome, 49XXXXY syndrome, Aneuploidy, Hypergonadotropic hypogonadism, Hypogonadism, Insulin resistance, Puberty (delayed or absent), Patient Demographics, Age, Adolescent/young adult, Gender, Male, Ethnicity, White, Country of Treatment, Italy, Diagnosis and Treatment, Signs and Symptoms, Cardiac malformations, Clumsiness, Craniofacial abnormalities, Hypogonadism, Hypovitaminosis D, Infections, Learning difficulties, Micropenis, Obesity, Postural instability, Psychomotor retardation, Puberty (delayed/absent), Skeletal deformity, Speech delay, Investigation, Chromosomal analysis, FSH, Glucose tolerance (oral), HOMA, Insulin, LH, Testosterone, Ultrasound scan, Vitamin D, Intervention, Hormone replacement, Medication, Cholecalciferol, Testosterone, Related Disciplines, Genetics, Publication Details, Case Report Type, Error in diagnosis/pitfalls and caveats
DOI:
https://doi.org/10.1530/EDM-15-0114
Volume/Issue:
Volume 2016: Issue 1
Open access