Partial urorectal septum malformation sequence in a kitten with disorder of sexual development

2014 ◽  
Vol 16 (12) ◽  
pp. 1016-1019 ◽  
Author(s):  
Brice S Reynolds ◽  
Amélie Pain ◽  
Patricia Meynaud-Collard ◽  
Joanna Nowacka-Woszuk ◽  
Izabela Szczerbal ◽  
...  
Keyword(s):  
Sexual Development ◽  
Leydig Cells ◽  
Rectourethral Fistula ◽  
Pathological Examination ◽  
Normal Male ◽  
Anal Opening ◽  
First Case ◽  
Disorder Of Sexual Development ◽  
Hedgehog Signalling Pathway ◽  
Male Karyotype

A 2-month-old kitten exhibited simultaneously an imperforate anus, hypospadias, rectourethral fistula and genital dysgenesis (penis restricted to the glans, absence of prepuce and bifid scrotum). Surgical correction consisted of separation of the urinary and digestive tracts, perineal urethrostomy and connection of the rectum to the newly made anal opening. Pathological examination of the testes, conventionally removed at 9 months of age, showed no mature spermatozoa and underdevelopment of germ and Leydig cells. In humans, the absence of an anal opening in association with abnormal sexual development defines the urorectal septum malformation sequence. Here, we describe the first case of this syndrome in a kitten with a normal male karyotype (38,XY) and a normal coding sequence for the SRY gene. Both the rectourethral fistula and observed genital abnormalities might have been induced by a disturbance in the hedgehog signalling pathway. However, although four polymorphic sites were identified by DHH gene sequencing, none cosegregated with the malformation.

scholarly journals A case report: 46 XY-disorder of sexual development

2019 ◽  
Vol 8 (3) ◽  
pp. 1200
Author(s):  
Tejal Kansara ◽  
Tushar Shah ◽  
Yesha Umbharatwala
Keyword(s):  
Case Report ◽  
Sexual Development ◽  
Multidisciplinary Approach ◽  
Correct Diagnosis ◽  
External Genitalia ◽  
Peripheral Blood Lymphocytes ◽  
Dysmorphic Features ◽  
Disorder Of Sexual Development ◽  
The Family ◽  
Male Karyotype

Authors report a case of a 6-year-old child with syndromic 46, XY disorder of sexual development. From the birth patient was assigned female. Physical examination showed dysmorphic features and ambiguous external genitalia. Cytogenetic analysis of cultured peripheral blood lymphocytes revealed a male karyotype. The result of the chromosomal investigation showing male genetic sex, together with the ambivalent aspect of the external genitalia and gonads that are exclusively testes led to the diagnosis of 46, XY disorder of sexual development. The clinical management will help the child and the family deal effectively with this condition A multidisciplinary approach to this problem involving pediatricians, specialists in the field of endocrinology, genetics, surgery and psychiatry is necessary in order to reach a prompt and correct diagnosis and treatment.

Two different patterns of mini-puberty in two 46,XY newborns with 17β-hydroxysteroid dehydrogenase type 3 deficiency

2015 ◽  
Vol 28 (7-8) ◽  
Author(s):  
Korcan Demir ◽  
Melek Yıldız ◽  
Özlem Nalbantoğlu Elmas ◽  
Hüseyin Anıl Korkmaz ◽  
Selma Tunç ◽  
...  
Keyword(s):  
Chorionic Gonadotropin ◽  
Sexual Development ◽  
External Genitalia ◽  
Hydroxysteroid Dehydrogenase ◽  
First Case ◽  
Disorder Of Sexual Development ◽  
Low Testosterone ◽  
Low Levels ◽  
Type 3 ◽  
Female External Genitalia

AbstractWe report two newborns with female external genitalia and bilateral inguinal swelling who were diagnosed with 17β-hydroxysteroid dehydrogenase type 3 deficiency, a rare cause of 46,XY disorder of sexual development. The first case had normal clitoral size and vaginal and urethral openings, palpable gonads in the inguinal region, low testosterone, and low levels of basal and GNRH-stimulated gonadotropin. The second case had similar external genitalia, low testosterone but borderline basal and normal stimulated gonadotropin levels. Low testosterone/androstenedione ratios (0.22 and 0.24, respectively; normal, >0.8) after human chorionic gonadotropin stimulation indicated 17β-hydroxysteroid dehydrogenase type 3 deficiency.

scholarly journals Disorder of Sexual Development and Congenital Heart Defect in 47XYY: Clinical Disorder or Coincidence?

2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Hanane Latrech ◽  
Imane Skikar ◽  
Mohammed El Hassan Gharbi ◽  
Abdelmjid Chraïbi ◽  
Ahmed Gaouzi
Keyword(s):  
Coronary Artery ◽  
Pulmonary Artery ◽  
Physical Examination ◽  
Sexual Development ◽  
Congenital Heart ◽  
Left Coronary Artery ◽  
Left Ventricular ◽  
Tall Stature ◽  
First Case ◽  
Disorder Of Sexual Development

Background. 47XYY syndrome is a rare sex chromosome variation characterized by an additional Y chromosome. Most patients with 47XYY karyotype have normal phenotype. This disorder seems associated with a higher risk of developing behavioral and cognitive problems, tall stature, and infertility in adulthood. Sexual development disorder is a rare finding. We report a first case with an abnormal left coronary artery originating from the pulmonary artery in a 47XYY patient.Case. A one-month-old child was referred for ectopic testis and micropenis. Physical examination revealed facial dysmorphia, micropenis, and curvature of the penis with nonpalpable testis. Laboratory tests showed decreased total testosterone and anti-Mullerian hormone (AMH) levels. Blood karyotyping revealed a 47XYY chromosomal formula. At the age of 3 months, the patient developed dyspnea and tachycardia. Echocardiography revealed an anomalous left coronary artery from pulmonary artery with left ventricular dysfunction requiring surgical revascularization by direct reimplantation of the left coronary artery system. Our second case was a 3-year-old child referred for hypospadias with nonpalpable left testicle. Physical examination showed hypertelorism. Blood karyotyping revealed a 47XYY chromosomal formula.Conclusion. To our knowledge, this is the first case of 47XYY syndrome associated with this congenital heart malformation and a sexual development disorder.

scholarly journals Pyosalpinx due to Cronobacter sakazakii in an elderly woman

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Satoshi Ohira ◽  
Eri Ikeda ◽  
Kyosuke Kamijo ◽  
Tomokuni Nagai ◽  
Koji Tsunemi ◽  
...  
Keyword(s):  
Abdominal Cavity ◽  
Lower Abdominal Pain ◽  
The Elderly ◽  
Pathological Examination ◽  
Milk Formula ◽  
Adult Women ◽  
Cronobacter Sakazakii ◽  
Left Edge ◽  
Powdered Milk ◽  
First Case

Abstract Background Cronobacter sakazakii (C. sakazakii) is a bacterium known to cause severe neonatal infections in premature infants with the consumption of contaminated powdered milk formula. Adult infections are rare, and there have been no reports of pyosalpinx due to C. sakazakii to date. Case presentation We report a case of left pyosalpinx due to C. sakazakii in a sexually inactive postmenopausal woman. A 70-year-old woman presented to our hospital with left lower abdominal pain and fever. Abdominal computed tomography disclosed a cystic mass continuous with the left edge of the uterus. Urgent laparotomy revealed a ruptured left pyosalpinx with pus-like content. Left salpingo-oophorectomy, resection of the right tube, and washing of the abdominal cavity with saline were performed. Pathological examination of the left adnexa showed tubal tissue with acute inflammation and inflammatory exudate, which were compatible with pyosalpinx, and pus culture yielded C. sakazakii. Conclusions This is the first case report of pyosalpinx due to C. sakazakii. Cronobacter sakazakii infections in adult women might occur in the elderly, whose immunity has weakened. Further accumulation of cases of C. sakazakii infection is needed to clarify the etiology and behavior of C. sakazakii in adults.

Psychological Problem in Pediatric Disorder of Sex Development Patient and Relatives

2021 ◽  
Vol 1 (2) ◽  
pp. 24-27
Author(s):  
Erlangga Danu Saputro
Keyword(s):  
Sexual Development ◽  
Psychosocial Problems ◽  
Psychological Problem ◽  
Systematic Search ◽  
Basic Data ◽  
Disorder Of Sex Development ◽  
Sex Development ◽  
Disorder Of Sexual Development ◽  
Counselling Program

Disorder of sexual development (DSD) is one of challenging disorder that has to be done clinically and physiologically. The patients and relatives may experience various psychosocial problems that have an impact on their live. The aim of this study is to look at psychological problem in children with DSD and their relatives. A systematic search was conducted in PubMed for articles representing information on psychological problem to the patient and their relatives. Relevant data were extracted and narratively reviewed. The result of this review can be used as basic data in the development of counselling program for the patients and their relatives.

scholarly journals A rare benign genitourinary tumor in a Japanese male: urinary retention owing to aggressive angiomyxoma of the prostate

Rare Tumors ◽  
2010 ◽  
Vol 2 (1) ◽  
pp. 43-45 ◽  
Author(s):  
Yugo Sawada ◽  
Fumio Ito ◽  
Hayakazu Nakazawa ◽  
Nobuhiko Tsushima ◽  
Hikaru Tomoe ◽  
...  
Keyword(s):  
Renal Dysfunction ◽  
Urinary Retention ◽  
Bladder Neck ◽  
English Literature ◽  
Pathological Examination ◽  
Aggressive Angiomyxoma ◽  
Urethral Meatus ◽  
First Case ◽  
Japanese Male ◽  
Old Japanese

Close examination of a 67-year-old Japanese man, who complained of persistent nocturia, revealed that a semitransparent polypoid tumor had developed from the bladder neck to the prostatic urethra obstructing the internal urethral meatus, which resulted in excessive urinary retention and post-renal dysfunction. The tumor was resected by a transurethral procedure and a pathological examination of specimens revealed aggressive angiomyxoma (AAM) of the prostate. AAM usually develops in the intrapelvic and perineal organs of females. So far as we know, this is the second case of primary prostatic AAM reported in the English literature, and is the first case where the patient encountered urethral obstruction.

scholarly journals A 45,X/46,XY DSD (Disorder of Sexual Development) case with an extremely uneven distribution of 46,XY cells between lymphocytes and gonads

2015 ◽  
Vol 24 (1) ◽  
pp. 11-14 ◽  
Author(s):  
Risa Nomura ◽  
Kentaro Miyai ◽  
Michiyo Okada ◽  
Michiko Kajiwara ◽  
Makoto Ono ◽  
...  
Keyword(s):  
Sexual Development ◽  
Uneven Distribution ◽  
Disorder Of Sexual Development

scholarly journals ALK-positive Histiocytosis of Umbilicus Subcutaneous with KIF5B-ALK Fusion: a Case Report

2021 ◽  
Author(s):  
Yili Zhu ◽  
Jun Fan ◽  
Bo Huang ◽  
Ying Wu ◽  
Heshui Shi ◽  
...  
Keyword(s):  
Pathological Examination ◽  
Older Children ◽  
Anaplastic Lymphoma ◽  
Molecular Tests ◽  
Spindle Cells ◽  
First Case ◽  
Alk Positive ◽  
Painless Mass ◽  
Lymphocytic Infiltrates

Abstract Background: Since the discovery of the first case of Anaplastic lymphoma kinase (ALK) -positive histiocytosis in 2008, originally described as a systemic, self-limiting disease in infants, the range of ALK-positive histiocytosis has recently been expanded to include localized diseases in older children and young adults. Case presentation: We present the case of an 18-year-old female with periumbilical painless mass for 5 months, who underwent a resection of the mass. Pathological examination showed the tumor consists predominantly of fascicular to storiform growth of nonatypical spindle cells, admixed with lymphocytic infiltrates. The tumor spindle cells were diffusely positive for CD68, CD163 and ALK. Further, molecular tests revealed ALK gene fusion: Kinesin Family Member 5B (KIF5B) (E24)-ALK (E20), confirmed ALK-positive histiocytosis. The tumor has not recurred one and a half years after resection by follow-up examination.Conclusion: ALK-positive histiocytosis in local lesion can achieve remission by complete resection and clinical follow-up showed a favorable prognosis.

scholarly journals A Neglected Parasite: Macracanthorhynchus hirudinaceus, First Report in Feral Pigs in a Natural Park of Sicily (Southern Italy)

2021 ◽  
Vol 8 ◽  
Author(s):  
Sergio Migliore ◽  
Roberto Puleio ◽  
Gabriella Gaglio ◽  
Domenico Vicari ◽  
Salvatore Seminara ◽  
...  
Keyword(s):  
Southern Italy ◽  
Population Control ◽  
Intestinal Wall ◽  
Pathological Examination ◽  
Inflammatory Reactions ◽  
Feral Pigs ◽  
Natural Park ◽  
First Case ◽  
Extensive Farming ◽  
Macracanthorhynchus Hirudinaceus

Sanitary management and population control of feral pigs remains a major problem in public health, particularly in natural parks where hunting is prohibited and the extensive farming of livestock is common. Macracanthorhynchus hirudinaceus is a zoonotic parasite species with a worldwide distribution of which the natural definitive hosts are primarily pigs and wild boars (Sus scrofa). The present study describes the main anatomo-pathological and parasitological findings in the first case of M. hirudinaceus in feral pigs in the Madonie park in Sicily (Southern Italy). Overall, 52 acanthocephalans were collected from the small intestine of four infected feral pigs. The prevalence among the 36 examined animals was 11.1% with a mean Abundance (mA) and mean Intensity (mI) of 1.4 and 13, respectively. Pathological examination revealed grossly visible nodules on the external surface of the intestines, corresponding to the proboscis of M. hirudinaceus attached deeply into the intestinal wall. In these sites, severe inflammatory reactions in the tissue involved and the destruction of normal intestinal architecture, as well as necrosis and ulceration in the mucosa, submucosa, and part of the muscolaris mucosae were described. This is the first official report of this neglected zoonosis in Italy, in particular in a natural park where the extensive farming of domestic pigs is practiced. This could favor the spread of this parasite in domestic animals and the environment, increasing the accidental risk of infection in human residents of these areas.

scholarly journals Diagnosis of Neonatal Herpes Simplex Infection from the Placenta

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Amanda E. Smith ◽  
Amy McKenney ◽  
Laura Rabinowitz ◽  
Anirudha Das
Keyword(s):  
Herpes Simplex ◽  
Intrauterine Infection ◽  
High Rate ◽  
Pathological Examination ◽  
Neonatal Herpes ◽  
Fetal Demise ◽  
First Case ◽  
Simplex Infection ◽  
Neonatal Herpes Simplex ◽  
Simplex Virus

Due to a high rate of fetal demise and premature birth in intrauterine HSV infection, the outcome in neonates is usually adverse. A female preterm infant with a gestational age of 25 1/7 weeks with expected early clinical course tested positive for neonatal herpes simplex virus (HSV) 2 after the neonatologist was informed of positive immunohistochemistry for the virus on the fifth day of life by the pathologist. Pathological examination of the placenta had revealed subacute necrotizing inflammation with stromal cell necrosis suggestive of intrauterine infection, possibly ascending due to prolonged rupture of membranes. To the best of our knowledge, this is the first case wherein placental pathology indicated exposure to HSV in utero before the infant presented with signs or symptoms of neonatal HSV resulting in a favorable outcome for the infant. Due to the variability of presentation of intrauterine HSV infection, pathological examination of the placenta in the first 2–5 days of life in premature infants can provide clues to the diagnosis of neonatal HSV which may significantly impact the outcome.

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