1/30. Bilateral cryptorchidism associated with 47,xyy karyotype.We describe an 11-month-old boy with karyotype of 47,XYY who presented with bilateral cryptorchidism, and discuss the hormonal condition of the patient.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
2/30. Two brothers with distal arthrogryposis, peculiar facial appearance, cleft palate, short stature, hydronephrosis, retentio testis, and normal intelligence: a new type of distal arthrogryposis?We report on two brothers, a 22-month-old boy and a 7-month-old boy, with multiple distal arthrogryposis (DA), peculiar facial appearance, cleft palate, short stature, hydronephrosis, retentio testis, and normal intelligence and karyotypes. The parents were cousins once removed. The combination of the clinical manifestations in the patients and the lack of involvement in their parents are incompatible with any known types of DA, and suggest a new type of DA. The parental consanguinity in the family suggests that the disorder is an autosomal recessive condition, although X-linked inheritance is not ruled out.- - - - - - - - - - ranking = 0.2keywords = karyotype (Clic here for more details about this article) |
3/30. Combination of hypospadias and maldescended testis as cardinal symptoms in gonosomal chromosome aberrations.Intersexual genitals or distinct hypospadias in combination with maldescended testis can be caused by endocrinological as well as chromosomal abnormalities. Even in early childhood such clinical findings require specific diagnostic procedures and subsequent treatment which is often invasive but has special importance as regards the early diagnosis of gonadal tumors. We present a child with cryptorchidism on the right, inguinal testis on the left and penoscrotal hypospadias. Cytogenetic analyses revealed a mosaic karyotype 45, X/46, X, idic (Yp) with unequal distribution of the mosaic in different tissues. In consequence of this chromosomal aberration the patient had mixed gonadal dysgenesis which is associated with an increased risk of tumor development in the aberrant gonads. The principles of pediatric, urological, cytogenetic and endocrinological diagnostics and the mode of data collection in the presented case are described and discussed. Furthermore, a protocol for preventive screening is presented, which combines urological and endocrinological investigations in males with malformations of the genito-urinary tract to minimize the risk of tumor development in the aberrant gonads.- - - - - - - - - - ranking = 0.2keywords = karyotype (Clic here for more details about this article) |
4/30. Extreme elevation of maternal serum alpha-fetoprotein associated with mosaic trisomy 8 in a liveborn.Constitutional mosaic trisomy 8 has been associated with syndromic dysmorphology, corneal opacities, leukemias, and trophoblastic disease. However, abnormal maternal serum alpha-fetoprotein (MSAFP) has not been reported in association with mosaic trisomy 8. Our case first presented for evaluation of an extremely elevated MSAFP with mild elevation of MShCG in an otherwise normal pregnancy: MSAFP 13.89 MoM, MShCG 3.57 MoM, and MSuE3 1.04 MoM. Fetal dysmorphism was limited to bilateral pyelectasis and a prominent third ventricle. Spontaneous labor at 38 weeks resulted in the birth of a 3,570-gram AGA male with APGARs 7(1)/8(5). The neonate had facial asymmetry, 5th finger clinodactyly, 2-3 toe syndactyly, undescended testicle, abnormal prepuce, and mild pyelectasis. CT scan revealed hypoplasia of the corpus callosum, while echocardiography demonstrated bicuspid aortic valve, and the neonatal karyotype (blood) returned 46,XY/47,XY 8. Evaluation at 3 months revealed more prominent facial asymmetry, plagiocephaly, plantar creases, descent of the testis, and mild developmental delay. review of the literature does not include any previously reported maternal serum alpha-fetoprotein aberrations in mosaic trisomy 8.- - - - - - - - - - ranking = 0.2keywords = karyotype (Clic here for more details about this article) |
5/30. Persistent mullerian duct syndrome with teratoma in an ectopic testis: imaging features.The persistent mullerian duct syndrome represents a rare form of male pseudohermaphroditism, secondary to mullerian inhibiting factor (MIF) deficiency. We describe imaging findings in a 30-year-old male (46 XY karyotype) with bilateral cryptorchidism and mullerian duct anomalies (presence of uterus and fallopian tubes). Grade-III teratoma with yolk sac tumour was detected in one of the undescended testis, lying in the pelvic cavity. The other testis was in the inguinal canal. The rest of the wolffian duct structures (e.g. prostate, seminal vesicles) were nearly normal. Very few reports of imaging findings of this entity have been published thus far, probably because of the rarity of entity, incidental detection of most of the cases at surgery and relatively asymptomatic clinical presentation.- - - - - - - - - - ranking = 0.2keywords = karyotype (Clic here for more details about this article) |
6/30. Persistent Mullerian duct syndrome presenting with bilateral intra-abdominal gonadal tumours and obstructive uropathy.Persistent Mullerian duct syndrome is a rare, autosomal recessive intersex disorder characterized by the presence of completely developed Mullerian duct derivatives in an otherwise normally virilized male with a 46, XY karyotype. We discuss a rare presentation of this disorder, bilateral gonadal tumours with obstructive uropathy, and its management, together with a review of the literature.- - - - - - - - - - ranking = 0.2keywords = karyotype (Clic here for more details about this article) |
7/30. A case of growth hormone and gonadotropin deficiency associated with unilateral anophthalmia, microphallus, cryptorchidism, and mental retardation.We report a rare case of growth hormone and gonadotropin deficiency associated with dysmorphic features. A 16-year-old boy had left anophthalmia, microphallus, bilateral cryptorchidism, and mental retardation. His chromosomal karyotype was normal, 46, XY. Endocrinological studies revealed growth hormone and gonadotropin deficiency, attributed to hypothalamic dysfunction. magnetic resonance imaging scan of the head showed a hypoplastic pituitary gland, decreased high intensity signals in the pituitary posterior lobe, absence of the left eye, and a hypoplastic left optic nerve with no abnormality of the pituitary stalk, corpus callosum, or septum pellucidum. Although not completely consistent with the features of septo-optic dysplasia (SOD), his condition was considered within the spectrum of SOD. Despite similarities to the Hesx1 knockout mouse, a model of human SOD, mutation analyses revealed no mutations or polymorphisms in coding regions of any exons or intron-exon boundaries of the HESX1 gene. Further genetic studies of this patient may improve understanding of molecular mechanisms involved in pituitary development.- - - - - - - - - - ranking = 0.2keywords = karyotype (Clic here for more details about this article) |
8/30. A novel point mutation in the hormone binding domain of the androgen receptor associated with partial and minimal androgen insensitivity syndrome.Mutations in the coding sequence of the androgen receptor (AR) gene result in a wide range of androgen insensitivity syndromes (AIS). We report an extended family in which at least five male individuals in different generations suffer from partial AIS. The index patient presented at birth with ambiguous genitalia; the karyotype was 46,XY and subsequent sex assignment male. Elevated stimulated testosterone (T) and normal baseline gonadotropins were found. family history revealed four additional adult males affected with various abnormalities of their external genitalia. Molecular analysis of the coding sequence of the AR gene revealed in all a novel point mutation in exon 6, changing threonine to isoleucine at codon position 800 in the hormone-binding domain. We conclude that phenotypic variations in mild AR defects are striking and can remain undetected even until late in life.- - - - - - - - - - ranking = 0.2keywords = karyotype (Clic here for more details about this article) |
9/30. Intratubular germ cell neoplasia in a man with ambiguous genitalia, 45,X/46,XY mosaic karyotype, and y chromosome microdeletions.We report the case of a 17-yr-old male with ambiguous genitalia, 45,X/46,XY mosaic karyotype, and y chromosome microdeletions. The patient underwent a testicular biopsy at the age of 6 with normal findings. A second biopsy at the age of 17 established the diagnosis of intratubular germ cell neoplasia (ITGCN), which was treated with bilateral orchidectomy. This case report deals with three important issues regarding ITGCN: First, although a prepubertal biopsy can be performed in order to provide evidence for future fertility, it is very unreliable for making a diagnosis of ITGCN. Second, because ITGCN tends to be a generalized procedure that affects both testes in a uniform pattern, a small number of biopsies, even a single one, could be adequate for diagnostic purposes in the majority of cases. Third, although the population that requires screening for ITGCN remains controversial, the early postpubertal period could be the optimum time for a testicular biopsy.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
10/30. SRY-positive 46,XX male with cryptorchidism as the only presenting clinical feature.The SRY gene, located on the short arm of the y chromosome, is responsible for differentiation of the testis from the undifferentiated gonad. We report a 4-year-old patient with male phenotype and female karyotype (46,XX) with cryptorchidism as the only presenting clinical abnormality. Fluorescent in situ hybridization analysis, using Y- and X-specific (whole chromosome painting WCP Y WCP X) dna and SRY probes, detected a small y chromosome fragment, including the SRY gene, transferred to the short arm of the x chromosome.- - - - - - - - - - ranking = 0.2keywords = karyotype (Clic here for more details about this article) |
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