Diagnosis and Treatment > Signs and Symptoms
Autonomous University of Barcelona, Barcelona, Spain
Search for other papers by E Mogas in
Google Scholar
PubMed
Autonomous University of Barcelona, Barcelona, Spain
Search for other papers by A Campos-Martorell in
Google Scholar
PubMed
Autonomous University of Barcelona, Barcelona, Spain
Centre for Biomedical Research Network on Rare Diseases (CIBERER), Madrid, Spain
Search for other papers by M Clemente in
Google Scholar
PubMed
Endocrinology and Diabetes Research Group, BioCruces Health Research Institute, UPV-EHU, CIBERDEM, Cruces University Hospital, Barakaldo, Spain
Search for other papers by L Castaño in
Google Scholar
PubMed
Centre for Biomedical Research Network on Rare Diseases (CIBERER), Madrid, Spain
Department of Pediatrics, Children’s University Hospital Vall Hebron, Barcelona, Spain
Search for other papers by A Moreno-Galdó in
Google Scholar
PubMed
Autonomous University of Barcelona, Barcelona, Spain
Centre for Biomedical Research Network on Rare Diseases (CIBERER), Madrid, Spain
Search for other papers by D Yeste in
Google Scholar
PubMed
Autonomous University of Barcelona, Barcelona, Spain
Centre for Biomedical Research Network on Rare Diseases (CIBERER), Madrid, Spain
Search for other papers by A Carrascosa in
Google Scholar
PubMed
Summary
Two pediatric patients with different causes of hyperparathyroidism are reported. First patient is a 13-year-old male with severe hypercalcemia due to left upper parathyroid gland adenoma. After successful surgery, calcium and phosphate levels normalized, but parathormone levels remained elevated. Further studies revealed a second adenoma in the right gland. The second patient is a 13-year-old female with uncommon hypercalcemia symptoms. Presence of pathogenic calcium-sensing receptor gene (CASR) mutation was found, resulting in diagnosis of symptomatic familial hypocalciuric hypercalcemia. Cinacalcet, a calcium-sensing agent that increases the sensitivity of the CASR, was used in both patients with successful results.
Learning points:
-
Hyperparathyroidism is a rare condition in pediatric patients. If not treated, it can cause serious morbidity.
-
Genetic tests searching for CASR or MEN1 gene mutations in pediatric patients with primary hyperparathyroidism should be performed.
-
Cinacalcet has been effective for treating different causes of hyperparathyroidism in our two pediatric patients.
-
Treatment has been well tolerated and no side effects have been detected.
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
Search for other papers by B Cangiano in
Google Scholar
PubMed
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
Search for other papers by C Cacciatore in
Google Scholar
PubMed
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
Search for other papers by L Persani in
Google Scholar
PubMed
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
Search for other papers by M Bonomi in
Google Scholar
PubMed
We describe a case of severe erythrocytosis caused by testosterone replacement therapy in a 66-year-old man affected with hypogonadotropic hypogonadism (HH) determining osteoporosis, resolved by switching to restoration therapy with clomiphene citrate. The patient complained fatigue, loss of libido and defective erections and a spontaneous vertebral fracture despite bisphosphonate therapy and vitamin D supplementation. The examinations proved isolated HH and he was therefore treated with testosterone gel with regression of specific manifestations but elevated hemoglobin and hematocrit values. Therefore, it was decided to switch to a restoration therapy with clomiphene citrate 25 mg/die, which resulted in the resolution of symptoms without evident side effects. In a couple of months, the patient showed normalization of testosterone levels and increment of testicular volume. Since secondary hypogonadism is the consequence of an insufficient stimulation of the gonads by hypothalamic–pituitary axis, therapeutic approaches aimed to restore endogenous testosterone production should be considered in alternative to testosterone replacement, particularly if side effects intervene. Among these strategies, clomiphene citrate seems to have a high efficacy and safety profile also in the elderly with isolated HH and no evident pituitary lesion.
Learning points:
-
Hypogonadism should always be assessed in patients with severe loss in BMD and undergo appropriate medical treatment.
-
In hypogonadotropic hypogonadism, more approaches are available other than testosterone replacement therapy alone.
-
In patients with severe late-onset central hypogonadism presenting with erythrocytosis even at low doses of replacement therapy, restoration therapy with clomiphene could prove to be an effective solution, particularly in patients with a reversible disruption of GNRH/gonadotropin functions.
-
Clomiphene citrate increases gonadotropin levels and testicular volume and should therefore be considered in hypogonadal men who wish to remain fertile.
Search for other papers by E Castellano in
Google Scholar
PubMed
Search for other papers by M Pellegrino in
Google Scholar
PubMed
Search for other papers by R Attanasio in
Google Scholar
PubMed
Search for other papers by V Guarnieri in
Google Scholar
PubMed
Search for other papers by A Maffè in
Google Scholar
PubMed
Search for other papers by G Borretta in
Google Scholar
PubMed
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.
