[48,XXYY syndrome: A report of four cases].
Zhonghua Nan Ke Xue
; 26(2): 149-153, 2020 Feb.
Article
en Zh
| MEDLINE
| ID: mdl-33346419
ABSTRACT
OBJECTIVE:
To explore the clinical characteristics and prognosis of the 48,XXYY syndrome and gain a deeper insight into this condition.METHODS:
This retrospective study included 4 cases of 48,XXYY syndrome confirmed between 2011 and 2018. We analyzed the general information, clinical manifestations, laboratory results, imaging features and outcomes of assisted reproductive technology (ART) of the patients and reviewed the relevant literature.RESULTS:
The 4 patients with 48,XXYY syndrome were characterized by low literacy, soft texture and small volume of the testis, high levels of FSH and LH, and low level of serum T. Two of them were diagnosed with ejaculatory dysfunction and aspermia, and the other 2 with normal ejaculatory function but azoospermia. Biochemical analysis of seminal plasma indicated normal quantifications of both fructose and neutral α glucosidase. ART with donor sperm was performed for all the 4 cases and 3 of them got full-term babies.CONCLUSIONS:
The 48,XXYY syndrome is often complicated by hypergonadotropic hypogonadism, with the clinical manifestations of aspermia or non-obstructive azoospermia. ART with donor sperm can be employed to help the patient with 48,XXYY syndrome get their non-biological offspring.Palabras clave
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Banco de datos:
MEDLINE
Asunto principal:
Trastornos de los Cromosomas Sexuales
Tipo de estudio:
Observational_studies
/
Prognostic_studies
Límite:
Humans
/
Male
Idioma:
Zh
Año:
2020
Tipo del documento:
Article