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A 20-year-old woman was studied because of lack of spontaneous pubertal development and primary amenorrhea. At the moment of examination in the Medical Genetics Department she had normal height, sparse axillary and pubic hair, but breasts were well developed (she already had some estrogen therapy). She had normal but infantile external genitalia, n...
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Swyer syndrome is a sex reversal disorder characterized by 46 XY karyotype, a normal female phenotype with normal Müllerian structures presenting as delayed puberty, inadequate development of secondary sexual characteristics, and amenorrhea. We describe a case involving 2 affected sisters born to a consanguineous couple with 2 different scenarios w...
Background:Female puberty starts when the pituitary hormone producing follicle-stimulating hormone (FSH) and luteinizing hormone (LH), which will stimulate the ovaries to produce estrogen. Delayed puberty with primary amenorrhea in female is the lack of breast development followed by the absence of menses 3 years after the initiation of breast deve...
Disorders of sex development (DSD) with mild external genital abnormalities may be diagnosed after puberty. Here, we report a case of 46,XY complete gonadal dysgenesis with a novel missense variant in sex-determining region Y (SRY), diagnosed after primary amenorrhea. A 15-yr-old patient presented to our gynecology department with a chief complaint...
Turner syndrome (TS) is a relatively common chromosomal disorder caused by complete or partial X monosomy. The most frequently observed karyotype, 45, X, arises more often by loss of the paternal X or Y chromosome in meiosis or in early embryogenesis than by loss of the maternal X chromosome. The main clinical features of TS are short stature, gona...
Background: We report the clinical case of female patient with 46,XY difference of sexual development (DSD) and discuss the challenges in the differential diagnosis between complete gonadal dysgenesis (also called Swyer syndrome) and complete androgen insensitivity syndrome. Case Presentation: The patient’s with primary amenorrhea gynaecological ex...
Citations
... Disorders or differences of sexual development (DSD) are congenital conditions in which development of chromosomal, gonadal or anatomical sex is abnormal and can present as a range of phenotypes -from slightly atypical appearance of genitalia to complete sex reversal (1,2). DSD can be an isolated finding in a patient, or part of a complex genetic syndrome associated with a variety of other conditions which makes overall workup and management of DSD cases even more complex (3). ...
Introduction:
Disorders of sexual development can present isolated or as a part of complex genetic syndromes.
Case presentation:
A newborn with ambiguous genitalia and prenatally diagnosed brain malformations was referred to our hospital. Prenatal ultrasound examination and MRI showed lissencephaly and absence of the corpus callosum. At admission, physical examination revealed microphallus, hypospadia and complete fusion of labioscrotal folds with nonpalpable gonads, normal blood pressure and serum biochemistry. Cortisol level was normal (201 nmol/L), testosterone elevated (14.4 nmol/L), FSH 0.1 IU/L, LH 0.7 IU/L, estradiol 241 pmol/L. Seizures were noted on the 2nd day and the child was started on anticonvulsives. When 17-OHP level results came back elevated (200 nmol/L), ACTH test was performed and the child was started on hydrocortisone and fludrocortisone treatment. Congenital adrenal hyperplasia became unlikely when karyotype result showed normal male karyotype (46, XY, SRY+) with no Mullerian structures seen on ultrasonographic exam. As association of ambiguous genitalia and lissencephaly strongly suggested a mutual genetic background, diagnosis of X-linked lissencephaly with ambiguous genitalia (X-LAG) became apparent.
Conclusions:
The presented case highlights the importance of looking at the whole clinical picture instead of separate isolated findings with emphasis on patient-centered approach guided by clinical findings and patient history.
... This protein is the testis determining factor (TDF), also referred to as the SRY protein, which initiates male sex determination. Mutations in this gene give rise to XY females with gonadal dysgenesis, Swyer syndrome (Stoicanescu et al., 2006). Translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome. ...
The Sayings of Prophet Mohammad (PBUH) were surveyed for relevant links with genetic recessiveness and genetic counseling. Important and interesting understandings of these concepts are found in the Prophet’s Sayings depicting the recessive genes that disappear in one generation and appear in another (Skipping of generations):
تخيروا لنطفكم فإن العرق دساس دساس (سنن ابن ماجه جزء 1 ص 633 حديث 1970(
Islam predates, therefore, the new discoveries of genetics by some 1400 years! The traditions of the Prophet enabled at that time to practice genetic counseling and resolve a social problem based on an insightful understanding of the recessivenes mode of inheritance. In fact, a man was furious about a black child born to him even though his wife and himself were non-black! The total story is detailed in this paper but to resume, the Prophet said: Possibly it is عِرق
عسى أن يكون نَزَعه عِرق
The word عِرق was employed here undoubtedly to designate «recessive gene» which might have segregated from the far grandparents and assorted in that black child. Genetically, this is a fully accepted possibility. This is an example of the scientific miracles (Ijaz) that strengthens faith in God who revealed the religious texts to his Prophet and therefore, demonstrates the ideological and scientific strength and authenticity of Islam. Marvelous social consequences on traits as skin color are evoked like fighting against color racism since black children can be born to non-black parents. Furthermore, compatibility of science and religious texts (The Glorious Qur›an and Honorable Hadith), directly opens the possibility of further investigations based on the religious citations which prove more and more to be full of merit and worthy of studying! Scientific inquiry is a religious manner to attain high degrees in the estimation of God:
O you who believe! when it is said to you, Make room in (your) assemblies, then make ample room, Allah will give you ample, and when it is said: Rise up, then rise up. Allah will exalt those of you who believe, and those who are given knowledge, in high degrees; and Allah is Aware of what you do. Al-Mujadila (She That Disputeth, The Pleading Woman, Qur’an Chapter 58, Verse 11).
يا أيها الذين آمنوا إذا قيل لكم تفسحوا في المجالس فافسحوا يفسح الله لكم وإذا قيل انشزوا فانشزوا يَرْفَعِ اللَّهُ الَّذِينَ آمَنُوا مِنكُمْ وَالَّذِينَ أُوتُوا الْعِلْمَ دَرَجَاتٍ (المجادله 58: 11(
At the end of this paper will be cited conclusions and recommendations…
Key Words: Honorable Hadith (Prophet Mohammad’s Sayings), Ijaz (scientific miracles in Hadith), genetics, recessiveness and genetic counseling.
... This protein is the testis determining factor (TDF), also referred to as the SRY protein, which initiates male sex determination. Mutations in this gene give rise to XY females with gonadal dysgenesis, Swyer syndrome ( Stoicanescu et al., 2006 Callaway, 2009;Isidor et al., 2009). ...
The Islamic scientific miracles (Ijaz) in Holy text of Qur’an and the Traditions of the Prophet (Hadith) are screened for relevant links with genetics. Interesting findings are explored in the genetics domains of extra-nuclear genetics, sex chromosomes and determination of the offspring’s sex. In addition to the pregnancy, labor, birth, breastfeeding, weaning and extra care received from the mother, genetically, we owe more to our mothers that to fathers as our cytoplasmic DNA comes exclusively from the mother. For sex determination, it is demonstrated that the father is genetically responsible for determining sex while environmental factors (e.g. pH level and even the nutrition of the mother…) play also a role. Evidently, both parents notably mothers are fully worthy of beneficence through life:
And We have enjoined man in respect of his parents his mother bears him with faintings upon faintings and his weaning takes two years saying: Be grateful to Me and to both your parents; to Me is the eventual coming (Luqman, Qur’an Chapter 31, verse 14).
ووصينا الإنسان بوالديه حملته أمه وهنا على وهن وفصاله في عامين أن أشكر لي ولوالديك إلي المصير (لقمان 31: 14 (
At the time of revelation, it was not known whether the fetus comes from the father or the mother or both! The Islamic knowledge that predates the recent discoveries with some 1400 years was put in service of establishing a strong social status with a considerable impact (e.g. beneficence to parents…). Such reconciliation of religious text with scientific discoveries strengthens the religion of Islam as it demonstrates its power inspired from its authenticity and divine source. It opens also new horizons for the religious texts to be investigated by scientific methods and techniques. This paper will be ended by conclusions and recommendations.
Key Words: Holy Qur’an, Honorable Hadith (the Sayings of Prophet Mohammad), Ijaz (scientific miracles in religious texts), genetics, extra-nuclear genetics, sex chromosomes, sex determination.
