Doble aneuploidía: síndromes de Klinefelter y Edwards (48, XXY, +18). Reporte de caso / Double aneuploidy: Klinefelter and Edwards syndromes (48, XXY, +18). Case report

La existencia de una doble aneuploidía en un mismo individuo es una anomalía cromosómica poco frecuente que involucra, mayoritariamente, al par sexual y al cromosoma 21. En el presente artículo, se expone el caso clínico de un niño con la doble aneuploidía 48,XXY,+18. El fenotipo del paciente era coincidente con el síndrome de Edwards. El diagnóstico se efectuó mediante la realización del estudio citogenético de linfocitos de sangre periférica. En la bibliografía revisada, solo se han encontrado 15 casos reportados de pacientes con síndromes de Klinefelter y Edwards.

The co-existence of a double chromosomal abnormality in one individual is a rare event, even more the simultaneous presence of Klinefelter (XXY) and Edwards (trisomy 18) syndrome. The aim of this article is to report the case of a newborn with a double aneuploidy, which consists in the coexistence of Edwards and Klinefelter syndrome. The patient's phenotype correlates mainly with Edwards syndrome. The diagnosis is made by performing the cytogenetics (karyotype) of peripheral blood lymphocytes. Only 15 cases of patients with Klinefelter and Edwards syndromes had been reported in literature so far.

Asociación de craneofaringioma y síndrome de Klinefelter en la transición puberal: un desafío diagnóstico / Craniopharyngioma and Klinefelter syndrome during the pubertal transition: A diagnostic challenge

Los craneofaringiomas son de los tumores hipofisarios más frecuentes en la niñez y, sea por su evolución o por el tratamiento que requieren, pueden comprometer el desarrollo puberal. El síndrome de Klinefelter es la causa más frecuente de hipogonadismo hipergonadotrópico en el varón. La presentación concomitante de ambas entidades es extremadamente baja (1/10(9)) y plantea un interrogante acerca de una probable asociación fisiopatológica. Se presenta el caso de un paciente belga de 18 años, con diagnóstico de craneofaringioma en la niñez y panhipopituitarismo luego del tratamiento quirúrgico y radioterápico. Al llegar a los 14 años, se inició la inducción puberal con gonadotropinas. Ante la falta de respuesta clínica, se completó una evaluación genética, que evidenció, de manera homogénea, una trisomía XXY. La falta de respuesta al tratamiento de inducción con gonadotropina exógena reveló la asociación de hipogonadismo primario y secundario, que demostró la importancia del seguimiento multidisciplinario que estos pacientes requieren.

Craniopharyngioma is the most common pituitary tumor in childhood. It can compromise the pubertal development because of its evolution or treatment. Syndrome of Klinefelter is the most common cause of hipergonadotrophic hypogonadism in males. The concomitant presentation of both entities is extremely low (1/10(9)) and the pathophysiological association is questionned. We present the case of a 18-year-old Belgian patient. He had a diagnosis of craniopharyngioma in childhood and he presented with panhypopituitarism after radiotherapy and surgical treatment. At the age of 14, he started pubertal induction with gonadotropin therapy without clinical response. A genetic evaluation confirmed a homogeneous 47, XXY karyotype. Failure of exogenous gonadotropin therapy revealed the hidden association of primary and secondary hypogonadism, demonstrating the importance of the followup and a multidisciplinary approach in these patients.

Auditory Neuropathy/Dyssynchrony: A Retrospective Analysis of 15 Cases

Introduction Auditory neuropathy/dyssynchrony (AN/AD) comprises a spectrum of pathology affecting the auditory pathways anywhere from the inner hair cells to the brainstem. It is characterized by an absent or atypical auditory brainstem response (ABR) with preservation of the cochlear microphonics and/or otoacoustic emissions (OAEs). Objective Retrospective analysis of patients with AN/AD. Methods Fifteen patients with AN/AD were included in this study and their records were retrospectively investigated. Results Possible etiology of AN/AD was neonatal hyperbilirubinemia in three patients, family history of hearing loss in three patients, consanguineous marriage in two patients, head trauma in two patients, mental motor retardation in one patient, cerebrovascular disease in one patient, and there was no apparent cause in three patients. Conclusion Otolaryngologists should keep in mind the diagnosis of AN/AD especially in patients complaining of difficulty in hearing and speech and audiological evidence of disassociation between pure tone and speech audiometry. ABR and OAE testing is recommended in these patients for AN/AD diagnosis. .

Chronic myeloid leukemia in case of Klinefelter syndrome.

Klinefelter syndrome (KS) is a sex chromosome disorder and has been reported to be associated with increased risk for malignancies. We report a 22‑year‑old male patient who was diagnosed to have chronic myeloid leukemia in chronic phase. Bone marrow cytogenetic examination revealed karyotype 47, XXY, t (9; 22)(q34, q11) suggestive of KS with presence of Philadelphia chromosome. The patient was treated with oral imatinib mesylate (400 mg/day). Complete hematological response was achieved after 2 months of therapy. The bcr‑abl/abl transcript percentage measured from peripheral blood at baseline, 1 and 2 years after imatinib were 97%, 1.99%, 0.007%, respectively. He remains in complete hematological and major molecular remission after 2 years of continued imatinib therapy.

Persistent suboptimal molecular response in a patient with chronic myelogenous leukemia and Klinefelter syndrome

No abstract available.

A 47,X,+t(X;X)(p22.3;p22.3)del(X)(p11.23q11.2),Y Klinefelter Variant with Morbid Obesity

Klinefelter syndrome is the most common type of genetic cause of hypogonadism. This syndrome is characterized by the presence of 1 or more extra X chromosomes. Phenotype manifestations of this syndrome are small testes, fibrosis of the seminiferous tubules, inability to produce sperm, gynecomastia, tall stature, decrease of serum testosterone and increases of luteinizing hormone and follicle stimulating hormone. Most patients with Klinefelter syndrome are tall, with slender body compositions, and reports of obesity are rare. We report the case of a 35-yr-old man with hypogonadism and morbid obesity and diabetes mellitus. He had gynecomastia, small testes and penis, very sparse body hair and his body mass index was 44.85. He did not report experiencing broken voice and was able to have erections. We conducted a chromosome study. His genotype was 47,X,+t(X;X)(p22.3;p22.3)del(X)(p11.23q11.2). In this case, the patient was diagnosed as Klinefelter syndrome. He showed rare phenotypes like morbid obesity and average height and the phenotype may be caused by the karyotype and the excess number of X chromosome. Further studies of the relationship between chromosomes and phenotype are warranted.

Extra X Chromosome in Mosaic Klinefelter Syndrome Is Associated with a Hematologic Malignancy

No abstract available.

Clinical and behavioural profile of a rare variant of klinefelter syndrome-48, XXXY.

Klinefelter’s syndrome is a sex chromosomal aneuploidy caused by an addition of X chromosome in males (47,XXY).Variants of this syndrome with X and Y polygamy are of rare occurrence. Here we describe a rare case of 48, XXXY Klinefelter’s variant from South India with a reported incidence of 1 per 17,000 to 1 per 50,000 male births. The presence of an extra X chromosome/s in these individuals has a great impact on the physical and cognitive functions, which could be attributed to gene dosage effects and genes involved in neurogenic development.

Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis

A síndrome de Prader-Willi é afecção genética de deficiência mental associada a hipogonadismo hipogonadotrófico, hiperfagia e obesidade. Descrevemos o caso de menino de 4 anos de idade, filho de casal consangüíneo, apresentando três condições clínicas não relacionadas: síndrome de Prader-Willi, cariótipo 47,XXY (compatível com síndrome de Klinefelter) e craniossinostose coronal. Ao nosso conhecimento, não foi relatado caso semelhante previamente na literatura.

Bilateral leydig cell tumor and male infertility

Leydig cell tumor is a rare form of testicular neoplasm which comprises 1-3% of all testicular tumors and only about 3% of these tumors are bilateral. A few Leydig all tumor have been described in patients with klinefelter's syndrome so far.: The patient described in this case report was a 24 year-old man with chief complaint of infertility for one year. Physical examination, semen analysis, testes sonography and hormonal assay were done for him. Right side simple orchiectomy was performed for patient. This tumor is always benign in children and approximately 90% are benign in adults. Clinical presentation is testicular enlargement, gynecomastia, sexual activity disturbances such as decreased libido, infertility and azoospermia. We recommend complete exam and karyotype in patients with infertility and azoospermia

A case report on Klinefelter syndrome.

An 18 year old boy presented with small genitalia, failure of eruption of secondary sex hairs, female like voice with eunachoid body habitus, bilateral gynecomastia, infantile external genitalia, small testes and poorly developed musculature. He was diagnosed as a case of 47XXY Klinefelter syndrome on the basis of hormone assay and karyotyping. He has given androgen replacement therapy with the aim to relieve symptoms of androgen deficiency, to reproduce physiological levels of plasma testosterone and to prevent long term consequences of androgen deficiency.

Graves' Disease Associated with Klinefelter's Syndrome

Klinefelter's syndrome is one of the most common forms of primary hypogonadism and infertility in males. It is characterized by small and firm testes, gynecomastia, azoospermia, and an elevated gonadotropin level. The frequencies of diabetes mellitus, breast cancer, and germ cell neoplasia increases in Klinefelter's syndrome. We report upon a 35 year-old male patient with Graves' disease in association with Klinefelter's syndrome; as confirmed by chromosome analysis. The patient is being treated with antithyroid medication for Graves' disease and by testosterone replacement for Klinefelter's syndrome.

Diagnóstico tardio da síndrome de Klinefelter: relato de caso / lote diagnosis of Kinefelter's syndrome: case report

A síndrome de Klinefelter (SK) resulta de uma deficiência genética com cariótipo 47,XXY, que pode levar ao hipogonadismo hipergonadotrófico, azoospermia e hipodesenvolvimento dos caracteres sexuais secundários. O mecanismo exato que determina a deficiência androgênica hão é ainda totalmente conhecido, sendo variável o grau de disfunção das células de Leydig. É uma doença de curso crônico com sérias repercussões sobre o aparelho reprodutor masculino, sendo importante causa de infertilidade em nível mundial. Apresentamos um homem de 33 anos de idade que evoluiu com ginecomastia bilateral, progressiva e dolorosa, hipogonadismo hipergonadotrófico e labilidade emocional decorrente do quadro. A presença de sinais e sintomas de deficiência de androgênios aliados à demonstração de cariótipo 47,XXY levaram ao diagnóstico de SK, envolvendo o paciente em uma rara síndrome com infertilidade, feminização e suas implicações biopsicossociais.

Polimiosite e Síndrome de Klinefelter: uma associaçäo rara / Polymyositis and Klinefelter's Syndrome: a rare association

Os papéis facilitadores do estrogênio e protetores do androgênio em relaçäo às desordens auto-imunes já säo conhecidos. O estado de hipogonadismo masculino provocado pela Síndrome de Klinefelter pode favorecer o aparecimento de doenças auto-imunes concomitantes como Lúpus Eritematoso Sistêmico, Esclerose Sistêmica, Polimiosite, Artrite Reumatóide e Tireoidite de Hashimoto. Os autores relatam a rara associaçäo entre Síndrome de Klinefelter e miopatia inflamatória crônica caracterizada como Polimiosite.

Factores causales de infertilidad masculina: contribución del factor endocrino / Causes of male infertility: the contribution of endocrine factors

Background: Male infertility is responsible for 35 percent of infertile couples. Aim: To investigate the causes of male infertility and the relative importance of endocrine factors. Patients and methods: Patients referred to an andrology clinic due to an abnormal spermiogram were studied. A testitular examination, spermiogram and determination of FSH, LH, testosterone and prolactin were done to all. Testicular biopsy was done to patients with severe oligospermia or azoospermia. Causes of infertility were defined and classified as pretesticular, testicular, posttesticular or unclassified. Results: Two hundred fifty seven males were studied. In 3.5 percent of them, the cause of infertility was defined as pretesticular (that included hypothalamic and pituitary endocrine causes), in 66.9 percent it was classified as testicular, in 15.6 percent as posttesticular and in 14 percent, as unclassified. Thirty percent of infertility cases were idiopathic, 17.9 percent were associated to varicocele, 12.8 percent were associated to cryptorchidism, 8.9 percent to Klinefelter syndrome and 6.6 percent to exposure to toxic substances. In 50 percent of patients with cryptorchidism, this abnormality was found during the specialized andrological examination and referrals for surgical correction were made late. Two thirds of patients with Klinefelter syndrome were hypoandrogenic. Conclusions: Causes for male infertility should be investigated and diagnosed accurately. Primary hypoandrogenic testicular failures must be treated with hormone replacement therapy

A case of Klinefelter syndrome with retroperitoneal teratoma

Klinefelter syndrome (KS) is often associated with various neoplasms, especially germ cell tumors. Mediastinum is the most favored site of extragonadal germ cell tumors with KS, which is somewhat different from those without KS. The retroperitoneal germ cell tumor in KS is very rare. A five-month-old boy with an abdominal mass was found to have a retroperitoneal tumor. After surgical removal, he was diagnosed to have mature cystic teratoma. Cytogenetic study of his peripheral lymphocytes revealed that his karyotype was consistent with KS. This case suggests that patients with KS might be at risk of having germ cell tumors in sites other than mediastinum. It also suggests that all cases with these tumors should be screened for the presence of karyotypic abnormalities, and it might help to assess the exact correlation between germ cell tumors and KS, and to treat them accordingly.

Cáncer de mama en el hombre / Cancer of the breast in men

La mama en el hombre es un órgano vestigial y el cáncer de mama es de rara incidencia, lo que limita los conocimientos de la enfermedad en sus aspectos etiológicos y terapéuticos. Sólo el 1 por ciento de todos los tumores cancerosos de mama se atribuyen al hombre(1). La incidencia del cáncer de mama en el hombre no aumenta en índices apreciables, una vez que los hombre no participan de programas de detección, y la enfermedad no es relatada suficientemete

Hipogonadismo Masculino: Un Enfoque Sencillo y Práctico / Male Hipogonadism: A Simple and Practical Approach

El hipogonadismo masculino representa una diminución de la función testicular con una baja en la producción de testosterona e infertilidad. Puede ser ocasionado por un problema intrínseco de los testículos (hipogonadismo primario), una falla del eje hipotálamo-hipofisiario (hipogonadismo secundario) o una respuesta disminuída o ausente de los órganos blanco a los andrógenos (resistencia androgénica). Los síntomas del hipogonadismo incluyen la caída del vello corporal, disminución de la función sexual y cambios de la voz. Dependiendo de la edad de aparición puede presentarse atrofia testicular, hábito eunocoide y ginecomastia. A largo plazo puede presentarse osteoporosis. El diagnóstico se sospecha clínicamente y se establece con la demostración de concentraciones bajas de testosterona sanguínea. Si existe un aumento concomitante de las gonadotropinas circulantes, Hormona Folículo Estimulante y Hormona Luteinizante, se habla de un hipogonadismo primario; pero si ambas están disminuidas el hipogonadismo es secundario. Existen diferentes formas de testosterona para el tratamiento de los pacientes con hipogonadismo; la más común, es la testosterona de depósito (enantato o cipionato) la cual se inyecta por vía intramuscular. La terapia actual consiste en la administración de testosterona por vía transdérmica, no escrotal, obteniéndose una concentración normal de testosterona con preservación del ritmo cardíaco