A new case of Casamassima-Morton-Nance (CMN) syndrome presenting prenatally as VACTERL association

2015 ◽  
Vol 4 (1) ◽  
Author(s):  
Hashinee Weraduwage ◽  
Nicholas Manton ◽  
Christopher P. Barnett
Keyword(s):  
External Genitalia ◽  
Ambiguous Genitalia ◽  
Prenatal Ultrasound ◽  
Facial Features ◽  
Vacterl Association ◽  
Anal Atresia ◽  
Dysplastic Kidney ◽  
Spondylocostal Dysostosis ◽  
Ultrasound Assessment ◽  
Original Report

AbstractCasamassima-Morton-Nance (CMN) syndrome (OMIM 271520) has clinical overlap with spondylocostal dysostosis and Vertebral, Anorectal, Cardiac, Tracheo-Esophageal, Radial/Renal, Limb (VACTERL) association but with consistent features of anal and urogenital abnormalities, particularly ambiguous genitalia. Since the original report, it has become clear that the combination of vertebral segmentation abnormalities, rib abnormalities, and urogenital anomalies may enable prenatal diagnosis of CMN by ultrasound. CMN syndrome is an important diagnosis to consider prenatally because of the generally poor prognosis compared to the more common VACTERL association. Here we present the seventh reported case of CMN syndrome. Prenatally presenting features of multiple segmentation anomalies within the spine, a left multi-cystic dysplastic kidney, marked pelvicaliectasis with abnormal renal parenchyma and a small stomach were suggestive of VACTERL association. There was severe oligohydramnios. Termination of pregnancy was performed at 22 weeks gestation and autopsy revealed dysmorphic coarse facial features, marked scoliosis, bilateral talipes, ambiguous external genitalia, and anal atresia. These features were highly suggestive of CMN syndrome. The important discriminating feature of ambiguous genitalia was not apparent on the prenatal ultrasound in this case because of severe oligohydramnios but we suggest that careful prenatal ultrasound assessment of the genitalia in cases of suspected VACTERL is important in differentiating these two conditions.

scholarly journals 45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study

2014 ◽  
Vol 132 (6) ◽  
pp. 332-338 ◽  
Author(s):  
Rafael Fabiano Machado Rosa ◽  
Willy Francisco Bartel D'Ecclesiis ◽  
Raquel Papandreus Dibbi ◽  
Rosana Cardoso Manique Rosa ◽  
Patrícia Trevisan ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Turner Syndrome ◽  
Early Recognition ◽  
External Genitalia ◽  
Ambiguous Genitalia ◽  
Referral Hospital ◽  
Clinical Genetics ◽  
Sex Development ◽  
Genital Ambiguity ◽  
The Individual

CONTEXT AND OBJECTIVE: 45,X/46,XY mosaicism, or mixed gonadal dysgenesis, is considered to be a rare disorder of sex development. The aim of our study was to investigate the clinical and cytogenetic characteristics of patients with this mosaicism.DESIGN AND SETTING: A retrospective study in a referral hospital in southern Brazil.METHODS: Our sample consisted of patients diagnosed at the clinical genetics service of a referral hospital in southern Brazil, from 1975 to 2012. Clinical and cytogenetic data were collected from the medical records.RESULTS: Fourteen patients were included in the sample, with ages at the first evaluation ranging from 2 days to 38 years. Nine of them had female sex of rearing and five, male. Regarding the external genitalia, most were ambiguous (n = 10). One patient presented male phenotype and was treated for a history of azoospermia, while three patients presented female phenotype, of whom two had findings of Turner syndrome and one presented secondary amenorrhea alone. Some findings of Turner syndrome were observed even among patients with ambiguous genitalia. None presented gonadal malignancy. One patient underwent surgical correction for genital ambiguity and subsequent exchange of sex of rearing. Regarding cytogenetics, we did not observe any direct correlation between percentages of cell lines and phenotype.CONCLUSIONS: 45,X/46,XY mosaicism can present with a wide variety of phenotypes resulting from the involvement of different aspects of the individual. All these observations have important implications for early recognition of these patients and their appropriate management.

HERMAPHRODITISM: CLASSIFICATION, DIAGNOSIS, SELECTION OF SEX AND TREATMENT

PEDIATRICS ◽  
1955 ◽  
Vol 16 (3) ◽  
pp. 287-302
Author(s):  
Lawson Wilkins ◽  
Melvin M. Grumbach ◽  
Judson J. Van Wyk ◽  
Thomas H. Shepard ◽  
Constantine Papadatos
Keyword(s):  
External Genitalia ◽  
Exploratory Laparotomy ◽  
Ambiguous Genitalia ◽  
Urogenital Sinus ◽  
Sex Characteristics ◽  
Normal Female ◽  
Anatomic Structure ◽  
Before School ◽  
And Behavior ◽  
Made In

The different types of ambisexual development have been described. It is most important in earliest infancy to differentiate, on the basis of the 17-ketosteroid excretion, female pseudohermaphroditism due to congenital adrenal hyperplasia from other forms of ambisexual development. The female pseudohermaphrodites should be reared as girls and treated with cortisone according to the methods described. Surgical exploration is not indicated. If the clitoris is enlarged it should be removed before school age and the urogenital sinus corrected to form a separate vagina. With cortisone therapy continued normal female development can be assured. When the adreno-genital syndrome has been excluded, all patients with ambiguous genitalia should be submitted to careful urethroscopic study and exploratory laparotomy. This applies also to individuals who appear to be cryptorchid males with hypospadias and those resembling females with gonads in the groins or labia. These procedures should be carried out in the earliest months of life and a definite decision made as to the sex in which the child is to be reared. Abundant evidence has been accumulated that an individual's gender role and erotic orientation are established through the cumulative experiences of years of living as a boy or a girl. Irrespective of chromosomes, gonads or hormones, the child who from earliest infancy has been steadfastly accepted as a girl or as a boy, particularly if the external genitals have been altered to conform to this sex, will not question his own gender and will conform to the habits and behavior of the sex of rearing. When there is prolonged doubt and uncertainty on the part of the parents or when a change of sex is imposed after an early age and before late adolescence the child will be confused and perplexed and psychologic difficulties result. Accordingly, every effort should be made in early infancy to decide the sex of rearing and the parents should be given support, guidance and reassurance. Necessary corrective operations should be undertaken as early in life as possible. No change from the original decision should be made in later childhood. It is advisable to select the sex of rearing according to the anatomic structure of the external genitalia rather than the type of gonads or the sex chromosomal pattern. To attempt to make a boy of an individual who does not have a fairly well-developed phallus is unwise and condemns the patient to a life of misery. Male pseudohermaphrodites who have external genitalia of female configuration invariably feminize at puberty, so that orchidectomy is not necessary to prevent masculinization. Its only indication might be to avoid the possible risk of testicular malignancy. Male pseudohermaphrodites whose genitalia resemble the male or are ambiguous may either masculinize or feminize at puberty. If it is decided to raise such a child as a female because of the small size of the phallus, orchidectomy may be performed in infancy to avoid the risk of masculinization or it may be postponed until masculinization begins. The former course often seems preferable. At puberty estrogen should be given in doses adequate to develop female sex characteristics. In these cases gonadectomy cannot be considered a mutilating operation or one which deprives the patient of fertility. On the contrary it is one which enables the patient to continue as a reasonably normal individual in the sex in which he has been reared and prevents the disastrous psychologic upheaval of a sex reversal.

Prenatal ultrasound diagnosis of ambiguous genitalia.

1985 ◽  
Vol 4 (8) ◽  
pp. 433-436 ◽  
Author(s):  
C Cooper ◽  
B S Mahony ◽  
J D Bowie ◽  
I I Pope
Keyword(s):  
Ambiguous Genitalia ◽  
Prenatal Ultrasound ◽  
Ultrasound Diagnosis

scholarly journals VP11.20: Anal atresia as the diagnostic clue in VACTERL association: a first trimester case report

2021 ◽  
Vol 58 (S1) ◽  
pp. 142-142
Author(s):  
Y. Wang ◽  
X. Dai ◽  
M.H. Liu ◽  
Y. Li ◽  
L. Li ◽  
...  
Keyword(s):  
Case Report ◽  
First Trimester ◽  
Vacterl Association ◽  
Anal Atresia ◽  
Diagnostic Clue

scholarly journals Up-to-Date Clinical and Biochemical Workup of the Child and the Adolescent with a Suspected Disorder of Sex Development

2021 ◽  
pp. 279-290 ◽  
Author(s):  
Romina P. Grinspon ◽  
Sebastián Castro ◽  
Rodolfo A. Rey
Keyword(s):  
External Genitalia ◽  
Ambiguous Genitalia ◽  
Diagnostic Approach ◽  
Reproductive Hormone ◽  
Imaging Studies ◽  
Disorder Of Sex Development ◽  
Surgical Exploration ◽  
Sex Development ◽  
Internal Genitalia ◽  
17 Hydroxyprogesterone

Background: The suspicion of a disorder of sex development (DSD) often arises at birth, when the newborn presents with ambiguous genitalia, or even during prenatal ultrasound assessments. Less frequently, the aspect of the external genitalia is typically female or male, and the diagnosis of DSD may be delayed until a karyotype is performed for another health issue, or until pubertal age when a girl presents with absence of thelarche and/or menarche or a boy consults for gynaecomastia and/or small testes. Summary: In this review, we provide a practical, updated approach to clinical and hormonal laboratory workup of the newborn, the child, and the adolescent with a suspected DSD. We focus on how to specifically address the diagnostic approach according to the age and presentation. Key Message: We particularly highlight the importance of a detailed anatomic description of the external and internal genitalia, adequate imaging studies or surgical exploration, the assessment of reproductive hormone levels – especially testosterone, anti-Müllerian hormone, 17-hydroxyprogesterone, and gonadotropins – and karyotyping.

scholarly journals A neglected case of treatable genetic disorder

2016 ◽  
Vol 4 (04) ◽  
pp. 01-03
Author(s):  
C. Rekha ◽  
R. Paramaguru ◽  
Vimala Sarojini ◽  
Dinisha Einstien ◽  
A. Prathiba
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Genetic Disorder ◽  
External Genitalia ◽  
Female Child ◽  
Ambiguous Genitalia ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Adrenal Hormones ◽  
Stage 4 ◽  
21 Hydroxylase Deficiency

Congenital adrenal hyperplasia(CAH) is a autosomal recessive genetic disorder involving adrenal hormones resulting in excessive production of androgens and hence their effects. Here we report a case of CAH which was diagnosed very late but was treated successfully. 12 years old female child came to us with ambiguous genitalia. Examination showed praders stage 4 external genitalia. Evaluated further and confirmed as a case of classic type of simple virilising congenital adrenal hyperplasia due to 21 hydroxylase deficiency. She was successfully treated with steroids and surgical correction was also done. Now child has also attained menarche and on follow up at our pediatric out patient department.

scholarly journals Pre- and Postnatal Features of Hydrometrocolpos in One Fetus of a Dizygotic Twin Pregnancy

2009 ◽  
Vol 3 (3) ◽  
pp. 97-101 ◽  
Author(s):  
Juan Mario Troyano-Luque ◽  
Margarita Álvarez de la Rosa ◽  
Ana Isabel Padilla ◽  
Laura Ces ◽  
José María Martínez ◽  
...  
Keyword(s):  
Neonatal Death ◽  
Twin Pregnancy ◽  
Ambiguous Genitalia ◽  
Cystic Mass ◽  
Dizygotic Twin ◽  
Anal Atresia ◽  
Female Fetus ◽  
Bicornuate Uterus ◽  
Cloacal Anomaly

Abstract A female fetus of a dizygotic pregnancy presented with a retrovesical cystic mass at 16 weeks. Severe and recurrent fetal ascitis developed at 25 weeks. Pre-eclampsia, probably due to mirror syndrome, precipitated fetal extraction, which led to severe prematurity complications and neonatal death. Necropsy showed: cloacal anomaly, anal atresia, ambiguous genitalia and bicornuate uterus.

Two Cases with Ring Chromosome 13 at either End of the Phenotypic Spectrum

2017 ◽  
Vol 153 (4) ◽  
pp. 175-180 ◽  
Author(s):  
Seda Çakmaklı ◽  
Tufan Çankaya ◽  
Semra Gürsoy ◽  
Altuğ Koç ◽  
Özgür Kırbıyık ◽  
...  
Keyword(s):  
Genetic Material ◽  
Ring Chromosome ◽  
Ambiguous Genitalia ◽  
Facial Dysmorphism ◽  
Anal Atresia ◽  
Genetic Condition ◽  
Chromosome 13 ◽  
Live Births ◽  
Phenotypic Spectrum ◽  
Chromosome Formation

Ring chromosome 13 is a rare genetic condition with an incidence of 1/58,000 in live births. Major clinical features of patients with ring chromosome 13 include growth and developmental retardation, microcephaly, facial dysmorphism, ambiguous genitalia, anal atresia, eye malformations, retinoblastoma, and hand, foot, and toe abnormalities. The severity of the phenotype depends on the amount of genetic material lost during ring chromosome formation. Here, we report 2 cases with ring chromosome 13 at either end of the phenotypic spectrum.

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