OBJECTIVE Present the case of a patient with a discontinuous intrabdominal splenogonadal fusion with an associated germ cell tumor. METHODS A case of a man of 29 years with bilateral cryptorchidism and left intra-abdominal discontinuous splenogonadal fusion associated with seminoma as an accidental finding in the context of a robotic pyeloplasty due to ipsilateral ureteropelvic junction sten...

Four boys with Fanconi's anaemia and growth hormone (GH) deficiency are reported. Case 1 had isolated GH deficiency and responded to HGH and to oxandrolone treatment. Case 2, his brother, had milder haematological and dysmorphic manifestations and maintained a low-normal growth rate without treatment in spite of laboratory evidence of GH deficiency. Case 3 had multiple hypothalamopituitary defe...

Persistent M ü llerian duct syndrome (PMDS) is an autosomal recessive disorder of sex development (DSD) characterized by the presence of M ü llerian duct derivatives in 46, XY phenotypic males. To date, more than 50 different mutations of the anti-M ü llerian hormone gene (AMH) have been reported. Here, we report two novel mutations of AMH in a Japanese patient with PMDS. A 1-year-old male pres...

Persistent M ü llerian duct syndrome (PMDS) is an autosomal recessive disorder of sex development (DSD) characterized by the presence of M ü llerian duct derivatives in 46, XY phenotypic males. To date, more than 50 different mutations of the anti-M ü llerian hormone gene (AMH) have been reported. Here, we report two novel mutations of AMH in a Japanese patient with PMDS. A 1-year-old male pres...

Received October 2007 Accepted June 2008 INTRODUCTION Leydig cell tumors (LCTs) are the most common stromal tumors, accounting for 3% of all testicular neoplasms.(1) Approximately, 3% of the LCTs are bilateral.(1) They may be hormonally active, leading to either feminizing or virilizing syndromes. About 10% of them are malignant.(1) The diagnosis of a malignant LCT is not always easy, because n...

This paper describes features of a study of different aspects of cryptorchidism in sheep in different parts of England. A total of 83 crytorchid testes (57 unilateral and 13 bilateral) were recognised in 70 animals post-slaughter at three abattoirs in the south west of England between June 2000-January 2004. Abdominal cryptorchids (60) were common than inguinal (23); 69% percent of cases were u...

Two prepubertal boys with bilateral cryptorchidism were identified as 46,XX after nuclear sexing studies in several tissues. Gonadal histology and chromosome studies suggested that true hermaphroditism or mosaicism were unlikely. Xg blood grouping was informative in one patient. Accepting paternity, this suggested either that both Xs were maternal, with loss, for example, of the male determinin...

A 36 year-old man after tests for assessing male infertility was diagnosed with primary infertility, bilateral cryptorchidism, nonobstructive azoospermia and discontinuous splenogonadal fusion. Carcinoma in situ was found in his left testicle, which was intraabdominal and associated with splenogonadal fusion. To our knowledge, this is the fourth case of splenogonadal fusion associated with test...

Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities. We report a 6 years old boy presenting as a union of these malformations and also having bilateral sensorineural hearing loss. Auditory di...