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Azoospermia, obstructive, with nephrolithiasis(OAZON)

MedGen UID:
1779119
Concept ID:
C5542351
Disease or Syndrome
Synonyms: AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS; OAZON
 
Gene (location): CLDN2 (Xq22.3)
 
Monarch Initiative: MONDO:0025356
OMIM®: 301060

Definition

Obstructive azoospermia with nephrolithiasis (OAZON) is characterized by male infertility due to obstruction at the head of the epididymis, as well as hypercalciuria and kidney stones (Askari et al., 2019). [from OMIM]

Clinical features

From HPO
Male infertility
MedGen UID:
5796
Concept ID:
C0021364
Disease or Syndrome
The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.
Spermatocele
MedGen UID:
20857
Concept ID:
C0037859
Disease or Syndrome
A cystic structure arising from the epididymis, rete testis or efferent ductuli. These structures are filled with spermatozoa containing fluid that may be milky. These cysts are usually outside the tunica vaginalis and, as with hydrocele, transluminate easily.
Nephrolithiasis
MedGen UID:
98227
Concept ID:
C0392525
Disease or Syndrome
The presence of calculi (stones) in the kidneys.
Obstructive azoospermia
MedGen UID:
868703
Concept ID:
C4023106
Disease or Syndrome
Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.

Recent clinical studies

Etiology

Kellermann G, Anastasiadis AG, Dräger DL, Prall F, Hakenberg OW
Urol Int 2015;95(4):486-8. Epub 2015 Feb 20 doi: 10.1159/000368911. PMID: 25721099

Diagnosis

Kellermann G, Anastasiadis AG, Dräger DL, Prall F, Hakenberg OW
Urol Int 2015;95(4):486-8. Epub 2015 Feb 20 doi: 10.1159/000368911. PMID: 25721099

Prognosis

Kellermann G, Anastasiadis AG, Dräger DL, Prall F, Hakenberg OW
Urol Int 2015;95(4):486-8. Epub 2015 Feb 20 doi: 10.1159/000368911. PMID: 25721099

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