Diagnosis and Treatment > Medication > Cholecalciferol

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Christopher Muir Departments of Endocrinology

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Anthony Dodds Haematology and Bone Marrow Transplantation, St Vincent’s Hospital, Sydney, Australia

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Katherine Samaras Departments of Endocrinology
Garvan Institute of Medical Research, Sydney, Australia

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Summary

Diamond–Blackfan anaemia (DBA) is a rare cause of bone marrow failure. The incidence of malignancy and endocrine complications are increased in DBA, relative to other inherited bone marrow failure syndromes. We describe an adult woman with DBA who developed osteoporosis and avascular necrosis (AVN) of both distal femora. Such endocrine complications are not uncommon in DBA, but under-appreciated, especially in adulthood. Further, rectal adenocarcinoma was diagnosed at age 32 years, requiring hemi-colectomy and adjuvant chemotherapy. Elevated cancer risk may warrant disease-specific screening guidelines. Genetic predictors of extra-haematopoetic complications in DBA are yet to be established.

Learning points:

  • Endocrine complications are common in DBA.

  • Clinical vigilance is required in managing bone health of DBA patients treated with glucocorticoids.

  • There is currently no reliable way to predict which patients will develop complications of therapy or premature malignancy related to DBA.

  • Complaints of bone or joint pain should prompt screening with targeted magnetic resonance imaging. Osteoporosis screening should be performed routinely.

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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.

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E Castellano
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M Pellegrino
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R Attanasio Endocrinology Service, Galeazzi Institute IRCCS, Milan, Italy

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V Guarnieri Genetics Unit, Casa Sollievo della Sofferenza, IRCCS, San Giovanni Rotondo, Italy

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A Maffè Genetics and Molecular Biology, Santa Croce and Carle, Cuneo, Italy

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G Borretta
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Summary

We report the association of primary hyperparathyroidism (PHPT) and Klinefelter's syndrome (KS) in a 22-year-old male complaining of worsening fatigue. PHPT was asymptomatic at the diagnosis, but the patient had worsening hypercalcemia and osteoporosis, and developed acute renal colic. He then underwent parathyroidectomy with resection of a single adenoma and normalization of calcium and parathyroid hormone levels. Clinical and therapeutic implications of this rare association are discussed.

Learning points

  • The coexistence of KS and PHPT is very uncommon.

  • Patients with mild PHPT often have nonspecific symptoms that may be confused and superimposed with those of hypogonadism.

  • KS patients, especially when young and already osteoporotic at diagnosis, should be screened for other causes of secondary osteoporosis, in particular PHPT.

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