Female phenotype with male karyotype: a clinical enigma

Gynandromorphs, i.e., individuals with a mix of male and female traits, are common in the wild bees of the genus Megachile (Hymenoptera, Apoidea). We described new transverse gynandromorphs in Megachile pilidens Alfkeen, 1924 and analyze the spatial distribution of body parts with male vs. female phenotype hitherto recorded in the transverse gynandromorphs of the genus Megachile. We identified 10 different arrangements, nine of which are minor variants of a very general pattern, with a combination of male and female traits largely shared by the gynandromorphs recorded in 20 out of 21 Megachile species in our dataset. Based on the recurrence of the same gynandromorph pattern, the current knowledge on sex determination and sex differentiation in the honey bee, and the results of recent gene-knockdown experiments in these insects, we suggest that these composite phenotypes are possibly epigenetic, rather than genetic, mosaics, with individual body parts of either male or female phenotype according to the locally expressed product of the alternative splicing of sex-determining gene transcripts.

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46,XX gonadal absence: a variant of the XX pure gonadal dysgenesis?

Acta Endocrinologica ◽

10.1530/acta.0.0990585 ◽

1982 ◽

Vol 99 (4) ◽

pp. 585-587 ◽

Cited By ~ 4

Author(s):

Martha Medina ◽

Susana Kofman-Alfaro ◽

Gregorio Pérez-Palacios

Keyword(s):

Gonadal Dysgenesis ◽

Female Phenotype

Abstract. Two unrelated 46,XX individuals with female phenotype and sexual infantilism were studied. Endocrine findings showed anoestrogenism and hypergonadotrophism with a normal pituitary response to LRH. Laparotomy disclosed ovarian absence with normal Mullerian derivatives and no gonadal streaks were found within the true pelvis or inguinal canals. This condition represents the 46,XX counterpart of the 46,XY gonadal absence syndrome. Whether the XX agonadism reported here is a different and distinctive entity or is a variant of the XX pure gonadal dysgenesis syndrome can not be ascertained at present.

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X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation

Cytogenetic and Genome Research ◽

10.1159/000478922 ◽

2017 ◽

Vol 152 (3) ◽

pp. 111-116 ◽

Cited By ~ 6

Author(s):

Salvatore Savasta ◽

Giorgia Carlone ◽

Riccardo Castagnoli ◽

Francesca Chiappe ◽

Francesco Bassanese ◽

...

Keyword(s):

Gene Mutation ◽

Ectodermal Dysplasia ◽

Novel Mutation ◽

Nucleotide Position ◽

Hypohidrotic Ectodermal Dysplasia ◽

Nasal Bridge ◽

Mutation Database ◽

Exon 1 ◽

Male Karyotype ◽

Eda Gene

We described a 5-year-old male with hypodontia, hypohidrosis, and facial dysmorphisms characterized by a depressed nasal bridge, maxillary hypoplasia, and protuberant lips. Chromosomal analysis revealed a normal 46,XY male karyotype. Due to the presence of clinical features of hypohidrotic ectodermal dysplasia (HED), the EDA gene, located at Xq12q13.1, of the patient and his family was sequenced. Analysis of the proband's sequence revealed a missense mutation (T to A transversion) in hemizygosity state at nucleotide position 158 in exon 1 of the EDA gene, which changes codon 53 from leucine to histidine, while heterozygosity at this position was detected in the slightly affected mother; moreover, this mutation was not found in the publically available Human Gene Mutation Database. To date, our findings indicate that a novel mutation in EDA is associated with X-linked HED, adding it to the repertoire of EDA mutations.

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Isochromosome Y [46, X, i(Yq)] and female phenotype

Clinical Genetics ◽

10.1111/j.1399-0004.1973.tb01168.x ◽

2008 ◽

Vol 4 (5) ◽

pp. 410-414 ◽

Cited By ~ 14

Author(s):

J. A. Böök ◽

Batia Eilon ◽

I. Halbrecht ◽

Luise Komlos ◽

Fiorella Shabtay

Keyword(s):

Female Phenotype

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Letter to the Editor

PEDIATRICS ◽

10.1542/peds.70.2.328 ◽

1982 ◽

Vol 70 (2) ◽

pp. 328-328

Author(s):

Louis E. Bartoshesky ◽

Hermine Pashayan

Keyword(s):

Birth Weight ◽

Congenital Heart ◽

Single Case ◽

Case Reports ◽

In Utero ◽

Normal Male ◽

In Utero Exposure ◽

Congenital Heart Malformations ◽

Male Karyotype ◽

Heart Malformations

We would agree with both writers that there were certain features of the child described in our report that were not typical of the so-called fetal hydantoin syndrome, particularly the birth weight. It is certainly true that single case reports do nothing more than suggest possible associations between malformations and in utero exposure, but much information has been accumulated associating clefts and congenital heart malformations with phenytoin. The baby described had a normal male karyotype. Attempts were made to do karyotyping on tissue obtained at autopsy but were unsuccessful.

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A case report: 46 XY-disorder of sexual development

International Journal of Reproduction Contraception Obstetrics and Gynecology ◽

10.18203/2320-1770.ijrcog20190906 ◽

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.

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Exploring the female autism phenotype of repetitive behaviours and restricted interests (RBRIs): a systematic PRISMA review

Advances in Autism ◽

10.1108/aia-09-2018-0030 ◽

2019 ◽

Vol 5 (3) ◽

pp. 171-186

Author(s):

Clare Allely

Keyword(s):

Autism Spectrum ◽

Future Research ◽

Repetitive Behaviours ◽

Restricted Interests ◽

Content Type ◽

Female Phenotype ◽

Timely Access ◽

Males And Females ◽

Women And Girls ◽

Detrimental Impact

Purpose The purpose of this paper is to address the need for increased understanding, awareness and recognition of the autism female phenotype in terms of repetitive behaviours and restricted interests (RBRIs). Design/methodology/approach A systematic PRISMA review was conducted. The main aim of the present systematic review is to identify studies which have investigated RBRIs in females with autism spectrum disorder (ASD) or the differences in RBRIs between males and females with ASD. Findings In sum, 19 relevant articles were identified: 5 studies found no significant evidence to support the notion of sex differences in RRBIs in ASD; 1 study did not report any differences in RRBIs between males and females with ASD; 12 studies found evidence that males with ASD had significantly more RRBIs compared to females with ASD; and, lastly, 1 study found that girls with ASD have features of RRBIs which are exhibited more compared to boys with ASD. Research limitations/implications There is a real lack of in-depth knowledge and understanding of the female phenotype of ASD, and such lack of knowledge has a detrimental impact on the identification of autistic females and a lack of identification can have negative consequence. This is important to address in future research as it is well established that the earlier the diagnosis, the better the outcomes, due to the timely access to appropriate interventions. Practical implications The RBRIs exhibited in autistic females are not sufficiently captured by most currently diagnostic instruments. Clinicians are less likely to identify the RBRIs in females as they tend not to be the typical repetitive behaviours commonly associated with ASD. It has been recommended that clinicians consider “females as a whole” in terms of their clinical presentation and look for any indication of RBRIs, even repetitive interests which appear clinically innocuous. Originality/value There is relatively little research investigating RBRIs in autistic women and girls. There is a real need to highlight the importance of understanding and recognising how RBRIs can differ between males and females with ASD.

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