Dizygotic monochorionic canine fetuses with blood chimaerism and suspected freemartinism

2017 ◽  
Vol 29 (2) ◽  
pp. 368 ◽  
Author(s):  
Carolynne J. Joonè ◽  
Kurt G. M. De Cramer ◽  
Johan O. Nöthling
Keyword(s):  
Genetic Analysis ◽  
Reproductive Tract ◽  
Ovarian Tissue ◽  
External Genitalia ◽  
Normal Male ◽  
Tissue Samples ◽  
Female Fetus ◽  
Blood Samples ◽  
Dna Profiles ◽  
Female External Genitalia

Two full-term canine fetuses were found to share a placenta during Caesarean section. The fetuses were of discordant gender, with apparently normal male and female external genitalia. Genetic analysis of whole-blood samples obtained from each fetus revealed identical DNA profiles, with more than two alleles detected at six loci. Subsequent genetic analysis of myocardial tissue samples revealed dissimilar DNA profiles, with at most two alleles detected per locus. Superimposition of the tissue-derived profiles matched that derived from the blood samples exactly, except for two loci failing to amplify, and hence demonstrated blood chimaerism. Dissection of the abdomen of the male fetus revealed delayed descent of the testes towards the inguinal canals. Macroscopically, the gonads, uterus and vagina were not identifiable on dissection of the female fetus, although vestigial ovarian tissue and a vagina were detected microscopically. The hypoplastic internal reproductive tract of the female fetus was suggestive of freemartinism and is believed to be the first report of this condition in the canine.

scholarly journals Normal male external genitalia do not rule out CYP11A1 deficiency

2019 ◽  
Vol 12 (7) ◽  
pp. e228235
Author(s):  
Vijaya Sarathi ◽  
Chithambaram Nagalingam
Keyword(s):  
Adrenal Insufficiency ◽  
External Genitalia ◽  
Serum Cortisol ◽  
Normal Male ◽  
Sequencing Analysis ◽  
Primary Adrenal Insufficiency ◽  
First Case ◽  
Renin Level ◽  
Male External Genitalia ◽  
Female External Genitalia

Defects in the initial steps of steroidogenesis usually present with female external genitalia in both 46,XX and 46,XY. Hence, they are not often considered in the differential diagnosis of primary adrenal insufficiency children with normal male external genitalia. Here, we report a boy with normal male external genitalia who presented with hyperpigmentation since the age of 2 years but diagnosis was delayed till 11 years of age. Evaluation revealed low-serum cortisol with elevated adrenocorticotropic hormone and direct renin level confirming primary adrenal insufficiency. Clinical exome sequencing analysis revealed a homozygous c.1351C>T (p.R451W) mutation in exon 8 of the CYP11A1 gene which was confirmed on Sanger sequencing. Both parents were heterozygous for the variation. To conclude, we report the first case of CYP11A1 deficiency from India. The report reiterates the existence of non-classic CYP11A1 deficiency characterised by primary adrenal insufficiency and normal male external genitalia in 46,XY.

scholarly journals Detection of Jaagsiekte sheep retrovirus in apparently healthy sheep by real-time TaqMan PCR in comparison with histopathological findings

2016 ◽  
Vol 60 (1) ◽  
pp. 7-12 ◽  
Author(s):  
Aliasghar Bahari ◽  
Masoud Sabouri Ghannad ◽  
Omid Dezfoulian ◽  
Fereydon Rezazadeh ◽  
Ali Sadeghi-Nasab
Keyword(s):  
Real Time ◽  
Real Time Pcr ◽  
Mediastinal Lymph Node ◽  
Pulmonary Adenocarcinoma ◽  
Ovine Pulmonary Adenocarcinoma ◽  
Jaagsiekte Sheep Retrovirus ◽  
Tissue Samples ◽  
Blood Samples ◽  
Proviral Dna ◽  
Healthy Sheep

Abstract Introduction: The aim of this study was to use TaqMan real-time PCR technique to investigate Jaagsiekte sheep retrovirus (JSRV) proviral DNA in whole blood samples of sheep, and compare the results to those of histopathological examinations. Material and Methods: Eighty blood samples from clinically healthy sheep were randomly collected before the animals were slaughtered. Ten tissue samples from each lung and associated caudal mediastinal lymph node were taken. Results: Fifteen (18.75%) blood samples were found to contain proviral DNA, and 11 (13.75%) corresponding lung samples showed microscopic changes consistent with ovine pulmonary adenocarcinoma. None of the samples displayed metastases to the caudal mediastinal lymph nodes. The prominent pattern of neoplastic nodules consisted of acinar (alveolar) form. Conclusion: The results indicated the higher sensitivity of real-time PCR compared to histopathological examinations in detection of ovine pulmonary adenocarcinoma.

46, XY Disorder of Sexual Development with Ambiguous Female External Genitalia: A Case Report

2021 ◽  
Vol 10 (1) ◽  
pp. 45-47
Author(s):  
Anil Kumar Sah ◽  
Bipin Maharjan ◽  
Mahesh Bahadur Adhikari ◽  
Suman Baral ◽  
Mimi Giri
Keyword(s):  
Case Report ◽  
Sexual Development ◽  
Dehydrogenase Deficiency ◽  
External Genitalia ◽  
Hydroxysteroid Dehydrogenase ◽  
Androgen Action ◽  
Disorder Of Sexual Development ◽  
Insufficiency Syndrome ◽  
Atypical Development ◽  
Female External Genitalia

Disorder of Sexual Development (DSD) is a group of congenital conditions with atypical development of sex at chromosomal, gonadal or anatomic level. Genetic males with DSD (46 XY DSD) can present with female external genital phenotype, ambiguous, or a micropenis. It is caused by incomplete intrauterine masculinization with or without the presence of Müllerian structures. It results either from decreased synthesis of testosterone or DHT or from impairment of androgen action. Herein, we report a case of a 13-year child raised as female with hoarseness of voice and gradual enlargement of clitoris with hormonal assessment not suggestive of either 5 Alfa Reductase deficiency, Congenital Adrenal Insufficiency Syndrome or 17β-Hydroxysteroid Dehydrogenase deficiency

scholarly journals Histological characterization of reproductive tract and fetal annexes of the West Indian Manatee (Trichechus manatus) from Brazil

2018 ◽  
Vol 38 (11) ◽  
pp. 2166-2174 ◽  
Author(s):  
Arielle R. Bezerra ◽  
Carminda S.B. Salmito-Vanderley ◽  
Paulo R.O. Bersano ◽  
Vitor L. Carvalho ◽  
Ana C.O. Meirelles ◽  
...  
Keyword(s):  
Reproductive Tract ◽  
West Indian ◽  
Recovery Phase ◽  
Northeastern Brazil ◽  
The West ◽  
Inflammatory Infiltration ◽  
Trichechus Manatus ◽  
Tissue Samples ◽  
Mature Phase ◽  
West Indian Manatee

ABSTRACT: The West Indian manatee (Trichechus manatus) is one of the most threatened aquatic mammals in Brazil, and is currently classified as “endangered” (MMA). The objective of this study was to characterize histologically the reproductive tract and fetal annexes of stranded manatees in northeastern Brazil. Tissue samples were collected from the reproductive tract of 23 manatees, which were fixed in 10% buffered formalin, processed using standard histological protocols and stained with hematoxylin eosin. We qualitatively described the histological and histomorphometric characteristics of each structure. Six ovaries were analyzed. In four ovaries, we found a large number of primordial and primary follicles. Two ovaries were different from the others: one had inflammatory infiltration and the other had a thickening in the cortex and absence of follicles. We also analyzed seven uteri (of which four were in the proliferative phase, two in the secretory phase, and one in the recovery phase), four placentas, one vagina, six testes (four were in the immature phase, one in the pubertal phase, and one in the mature phase), two epididymides, two penises, and one umbilical cord. The histological and morphometric findings in our work will support future analyses of the reproductive tract of T. manatus from Brazil.

scholarly journals Sex-Determining Gene(s) on Distal 9p: Clinical and Molecular Studies in Six Cases*

2000 ◽  
Vol 85 (9) ◽  
pp. 3094-3100 ◽  
Author(s):  
Koji Muroya ◽  
Torayuki Okuyama ◽  
Keiji Goishi ◽  
Yoshifumi Ogiso ◽  
Shin Fukuda ◽  
...  
Keyword(s):  
Wide Spectrum ◽  
External Genitalia ◽  
Chromosome 9 ◽  
Severe Malnutrition ◽  
Female Case ◽  
Dm Domain ◽  
Baseline Values ◽  
Male External Genitalia ◽  
Female External Genitalia

Abstract We report on clinical and molecular findings in five karyotypic males (cases 1–5) and one karyotypic female (case 6) with distal 9p monosomy. Cases 1–3 and 6 had female external genitalia, case 4 showed ambiguous external genitalia, and case 5 exhibited male external genitalia with left cryptorchidism and right intrascrotal testis. Gonadal explorations at gonadectomy in cases 3 and 4 revealed that case 3 had left streak gonad and right agonadism, and case 4 had bilateral hypoplastic testes. Endocrine studies in cases 1–4 and 6 showed that cases 1, 3, and 6 had definite primary hypogonadism, with basal FSH levels of 54, 39, and 41 IU/L, respectively, whereas case 2 with severe malnutrition was unremarkable for the baseline values, and case 4 had fairly good testicular function. Fluorescence in situ hybridization and microsatellite analyses demonstrated that all cases had hemizygosity of the 9p sex-determining region distal to D9S1779, with loss of the candidate sex-determining genes DMRT1 and DMRT2 from the abnormal chromosome 9. Sequence analysis in cases 1–4 and 6 showed that they had normal sequences of each exon of DMRT1 and the DM domain of DMRT2 on the normal chromosome 9, and that cases 1–4 had normal SRY sequence. The results provide further support for the presence of a sex-determining gene(s) on distal 9p and favor the possibility of DMRT1 and/or DMRT2 being the sex-determining gene(s). Furthermore, as hemizygosity of the 9p sex-determining region was associated with a wide spectrum of gonadogenesis from agonadism to testis formation in karyotypic males and with primary hypogonadism regardless of karyotypic sex, it is inferred that haploinsufficiency of the 9p sex-determining gene(s) primarily hinders the formation of indifferent gonad, leading to various degrees of defective testis formation in karyotypic males and impaired ovary formation in karyotypic females.

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