BGDB Sexual Differentiation - Abnormalities: Difference between revisions
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Note that some abnormalites affect physiological function, while others through mainly perturbed endocrine effects, can impact upon not only other systems but also have neurological ramifications upon sexual identity. Then finally look at the online information provided to the general public on birth defects associated with genital system development and sexuality. | Note that some abnormalites affect physiological function, while others through mainly perturbed endocrine effects, can impact upon not only other systems but also have neurological ramifications upon sexual identity. Then finally look at the online information provided to the general public on birth defects associated with genital system development and sexuality. | ||
Genital abnormalities fall into several categories: chromosomal, intersex, gonadal dysfunction, tract abnormalities, external genitalia and gonadal descent. | Genital abnormalities fall into several categories: chromosomal, intersex, gonadal dysfunction, tract abnormalities, external genitalia and gonadal descent. | ||
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==Disorders of Sex Development== | ==Disorders of Sex Development== | ||
The previous human sex development terminology (true hermaphrodites, male pseudohermaphrodites and female pseudohermaphrodites) are considered outdated and stigmatising and have been replaced with the general term Disorders of Sex Development ('''DSD''') established by the Consensus statement on management of intersex disorders.{{#pmid:16882788|PMID16882788}} See also the Medical Journal of Australia 2009 editorial article.{{#pmid:19485836|PMID19485836}} | The previous human sex development terminology (true hermaphrodites, male pseudohermaphrodites and female pseudohermaphrodites) are considered outdated and stigmatising and have been replaced with the general term Disorders of Sex Development ('''{{DSD}}''') established by the Consensus statement on management of intersex disorders.{{#pmid:16882788|PMID16882788}} See also the Medical Journal of Australia 2009 editorial article.{{#pmid:19485836|PMID19485836}} | ||
See [[BGDB_Sexual_Differentiation_-_Abnormalities#DSD_Terminology|DSD Terminology]] | See [[BGDB_Sexual_Differentiation_-_Abnormalities#DSD_Terminology|DSD Terminology]] |
Revision as of 00:41, 5 June 2018
Practical 12: Sex Determination | Early Embryo | Late Embryo | Fetal | Postnatal | Abnormalities | 2011 Audio |
Reproductive Abnormalities
This page introduces the statistical data associated with birth abnormalities in the genital system in Australia and also briefly introduces some of these defects. For more detailed coverage look at the Genital Abnormalities Notes. Abnormalites associated with development of secondary sex characteristics including mammary development are not covered in this current practical class.
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Disorders of Sex Development
The previous human sex development terminology (true hermaphrodites, male pseudohermaphrodites and female pseudohermaphrodites) are considered outdated and stigmatising and have been replaced with the general term Disorders of Sex Development (DSD) established by the Consensus statement on management of intersex disorders.[1] See also the Medical Journal of Australia 2009 editorial article.[2]
See DSD Terminology
Sex Chromosomes
Trisomy X | Klinefelter syndrome | Monosomy X Turner Syndrome |
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Trisomy X is a caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). This is also the most common female chromosomal abnormality, occurring in approximately 1 in 1,000 female births. Most females with triple X syndrome have normal sexual development. | Klinefelter syndrome (47,XXY or XXY) in males has several features including sterility. See also 2011 Science student project. | Turner Syndrome Monosomy X is a chromosomal disorder (approximately 1 in 2000 live female births) caused by a complete or partial X monosomy in some or all cells. Features sexual development altered during puberty, early end to menstrual cycles not due to pregnancy, and inability to conceive without fertility treatment. See also 2011 Science student project. |
Critical Periods
This figure provides a broad general summary of key events in genital development in relation to critical periods.
Gonadal Descent
External Genitalia
Penoscrotal Hypospadia 3D Ultrasound
Ultrasonography in rendering mode, at GA 33 weeks, with short penis and with evidence of testicles inside a bifid scrotum. |
Internal Genitalia
Male
- Ductus Deferens - unilateral or bilateral absence congenital unilateral absence of the vas deferens (CUAVD), Congenital bilateral absence of the vas deferens (CBAVD)
failure of mesonephric duct to differentiate frequent cause of obstructive azoospermia 75% of men with bilateral absence have at least one detectable common mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene
Female
- Uterus - Uterine Duplication, Unicornate Uterus, Septate Uterus.
- Cervical - cervical agenesis, cervical duplication
- Vagina Absence - Failure of sinovaginal bulb development, 1 in 4,000 to 5,000 female births.
Ultrasound Bicornuate Uterus | ||||
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This ultrasound scan shows a bicornuate uterus and an ectopic (cornual) pregnancy. |
This cartoon shows the new 2013 ESHRE-ESGE classification system[3] based on uterine anatomy, embryological origin is the secondary basic characteristic, and both cervical and vaginal anomalies are classified in independent co-existent sub-classes. For more detail see Additional Information.
Other Abnormalities
Use the links to find out more about these topics.
- Congenital Adrenal Hyperplasia - impairment of cortisol production by the adrenal cortex, is one of the most common causes of intersex genitalia at birth.
- Androgen Insensitivity Syndrome - genetically male (XY) unable to respond to male sex hormones (androgens), they may have mostly female sex characteristics or signs of both male and female sexual development. Also a partial androgen insensitivity syndrome (PAIS) associated with impaired male genital development that can be transmitted through mutations in the androgen receptor.
- Cryptorchidism - covered in detail above.
- Undescended Ovaries - reasonably rare gonad abnormality, often detected following clinical assessment of fertility problems and may also be associated with other uterine malformations (unicornuate uterus).
- Hydrocele - covered above, most commonly male (but can also be female) fluid-filled cavity.
Practical 12: Sex Determination | Early Embryo | Late Embryo | Fetal | Postnatal | Abnormalities | 2011 Audio |
Additional Information
Additional Information - Content shown under this heading is not part of the material covered in this class. It is provided for those students who would like to know about some concepts or current research in topics related to the current class page. |
International Classification of Diseases - XVII Congenital Malformations
ICD10 Congenital malformations of genital organs (Q50-Q56) |
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The International Classification of Diseases (ICD) World Health Organization's classification used worldwide as the standard diagnostic tool for epidemiology, health management and clinical purposes. Includes this section on XVII Congenital Malformations. |
Congenital malformations of genital organs (Q50-Q56)
Excl.: androgen resistance syndrome (E34.5) syndromes associated with anomalies in the number and form of chromosomes (90-99) testicular feminization syndrome (E34.5) |
Q50 Congenital malformations of ovaries, fallopian tubes and broad ligaments
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Q51 Congenital malformations of uterus and cervix
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Q52 Other congenital malformations of female genitalia
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Q53 Undescended testicle
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Q54 Hypospadias
Excl.: epispadias (64.0)
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Q55 Other congenital malformations of male genital organs
Excl.: congenital hydrocele (P83.5) hypospadias (54.-)
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Q56 Indeterminate sex and pseudohermaphroditism
Excl.: pseudohermaphroditism: female, with adrenocortical disorder (E25.-) male, with androgen resistance (E34.5) with specified chromosomal anomaly (96-99)
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Please note that this category uses old terminology, that has been replaced elsewhere with "Disorders of Sex Development (DSD)". |
World Health Organisation. International Statistical Classification of Diseases and Related Health Problems. (1992) 10th Revision (ICD-10). Geneva: WHO ICD-10 - 2016 Online (English) |
ICD10 - Gastrointestinal | Genital | Renal | Integumentary |
ICD10 Congenital malformations of the urinary system (Q60-Q64) | ||||
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The International Classification of Diseases (ICD) World Health Organization's classification used worldwide as the standard diagnostic tool for epidemiology, health management and clinical purposes. Includes this section on XVII Congenital Malformations. | ||||
Q60 Renal agenesis and other reduction defects of kidney
Incl.: atrophy of kidney: congenital infantile congenital absence of kidney
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Q61 Cystic kidney disease
Excl.: acquired cyst of kidney (N28.1) Potter's syndrome (60.6)
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Q62 Congenital obstructive defects of renal pelvis and congenital malformations of ureter
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Q63 Other congenital malformations of kidney
Excl.: congenital nephrotic syndrome (N04.-)
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Q64 Other congenital malformations of urinary system
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World Health Organisation. International Statistical Classification of Diseases and Related Health Problems. (1992) 10th Revision (ICD-10). Geneva: WHO ICD-10 - 2016 Online (English) | ||||
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ICD10 - Gastrointestinal | Genital | Renal | Integumentary |
Note that the ICD-10 coding will be updated to the new ICD-11 during 2017.
DSD Terminology
New Terminology | Previous Terminology |
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DSD | Intersex |
46,XY DSD | Male pseudohermaphrodite undervirilization of an XY male undermasculinization of an XY male |
46,XX DSD | Female pseudohermaphrodite overvirilization of an XX female masculinization of an XX female |
Ovotesticular DSD | True hermaphrodite |
46,XX testicular DSD | XX male or XX sex reversal |
46,XY complete gonadal dysgenesis | XY sex reversal |
Hypospadia
Hypospadia Classification | Meatus Opening |
Anterior | on inferior surface of glans penis |
Coronal | in balanopenile furrow |
Distal | on distal third of shaft |
Penoscrotal | at base of shaft in front of scrotum |
Scrotal | on scrotum or between the genital swellings |
Perineal | behind scrotum or genital swellings |
Links: Genital Abnormalities | Penis Development |
- Epispadias - Uncommon abnormality associated with the penis, 1 in 30,000 infant males, external urethral opening on the dorsal surface of penis.
- Cryptorchidism in common eutherian mammals.[4] - Species comparison of descent timeline
- Mayer-Rokitansky syndrome (MRK anomaly, Rokitansky-Küster-Hauser syndrome, RKH syndrome, RKH) congenital absence of the vagina, dyspareunia, vaginal agenesis.
Uterine Anomalies
ESHRE/ESGE Classification of Uterine Anomalies | |
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European Society of Human Reproduction and Embryology (ESHRE) and the European Society for Gynaecological Endoscopy (ESGE)
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<pubmed>23894234</pubmed>
See also ICD10 Congenital malformations of genital organs (Q50-Q56) |
- Uterine Duplication (uterus didelphys, double uterus, uterus didelphis) A rare uterine developmental abnormality where the paramesonephric ducts (Mullerian ducts) completely fail to fuse generating two separate uterus parts each connected to the cervix and having an ovary each. Failure of fusion of lower paramesonephric ducts, with either double or single vagina.
- Unicornate Uterus - failure of the paramesonephric ducts to fuse. A single paramesomnephric duct has fused with the vaginal plate and now opens into the vagina, while the other forms a diverticulum.
- Septate Uterus
Polycystic Ovary Syndrome
(PCOS) or Stein–Leventhal syndrome (1930s researchers) a metabolic syndrome with many other symptoms, ovarian cysts arise through incomplete follicular development or failure of ovulation. For review see[5]
Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia | |||
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Type | Enzyme Deficiency | Female | Male |
classic virilizing adrenal hyperplasia | 21-hydroxylase, 11-beta-hydroxylase, or 3-beta-hydroxysteroid dehydrogenase |
ambiguous genitalia at birth - complete or partial fusion of the labioscrotal folds and a phallic urethra to clitoral enlargement (clitoromegaly), partial fusion of the labioscrotal folds, or both | normal genitalia, present at age 1-4 weeks with salt wasting (salt-wasting adrenal hyperplasia) |
simple virilizing adrenal hyperplasia | mild 21-hydroxylase | identified later in childhood because of precocious pubic hair, clitoral enlargement (clitoromegaly), or both, often accompanied by accelerated growth and skeletal maturation | early genital development (pubic hair and/or phallic enlargement) accelerated growth and skeletal maturation |
nonclassic adrenal hyperplasia | milder deficiencies of 21-hydroxylase or 3-beta-hydroxysteroid dehydrogenase |
present at puberty or adult with infrequent menstruation (oligomenorrhea), abnormal hair growth (hirsutism), and/or infertility | |
17-hydroxylase deficiency syndrome | 17-hydroxylase deficiency or 3-beta-hydroxysteroid dehydrogenase |
rare, phenotypically female at birth do not develop breasts or menstruate in adolescence and may have hypertension | steroidogenic acute regulatory (StAR) deficiency have ambiguous genitalia or female genitalia, at puberty may lack breast development and may have hypertension |
Prader Stages | |
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Stage 0 | Normal female genitalia. |
Stage 1 | Mildly enlarged clitoris, slightly reduced vaginal opening, usually within normal variations. |
Stage 2 | Abnormal genitalia clearly seen by eye, phallus being intermediate in size, small vaginal opening with separate urethral opening. Posterior labial fusion present. |
Stage 3 | Further enlarged phallus than Stage 2, with single urogenital sinus and nearly complete fusion of the labia. |
Stage 4 | Upon examination, looks more male than female, with an empty scrotum and a normal-sized penis-like phallus, however this structure is not quite as free from the perineum to be pulled onto the abdomen towards the umbilicus. A small urethral/vaginal opening at the base of the shaft/phallus (hypospadias in a male), with an x-ray showing the internal connection with the upper vagina and uterus. |
Stage 5 | Complete male virilisation, a normally-formed penis is present. Urethral opening at or near the tip, and the scrotum formed, but empty. Internal organs in the pelvis include normal ovaries and uterus, with the vagina connecting internally with the urethra (as in Stage 4). Newborn infants are not seen to be visibly ambiguous, and are assumed to be normal boys (with undescended testes). The diagnosis of CAH is not apparent until signs of salt-wasting develop, about a week later. |
Stage 6 | Normal male presentation of the penis with normal testes. |
Links: Genital - CAH | Adrenal - CAH | Female | Genital System - Abnormalities | Genital Terms |
Persistent Mullerian Duct Syndrome
Rare mutations in the AMH gene or its receptor can lead to persistence of the entire, or parts of, the paramesonephric duct (Mullerian Duct) as shown in this surgical image.[6] |
Environmental Abnormalities
Diethylstilbestrol (DES or diethylstilbetrol) - is a drug that was prescribed to women from 1938-1971 to prevent miscarriage in high-risk pregnancies.
- The drug acted as a potent estrogen (mimics natural hormone) and therefore could also act as a potential endocrine disruptor.
- This led to a number of developing fetal reproductive tract and other abnormalities.
- In the female fetus, it increased risk of abnormal reproductive tract and also carcinogenic (cancer forming).
- In the male fetus, it increased the occurance of abnormal genitalia.
- The drug was banned by FDA (USA) in 1979 as a teratogen, it had previously also been used as livestock growth promoter and could have potentially entered the human food chain.
References
- ↑ Lee PA, Houk CP, Ahmed SF & Hughes IA. (2006). Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics , 118, e488-500. PMID: 16882788 DOI.
- ↑ Warne GL & Hewitt JK. (2009). Disorders of sex development: current understanding and continuing controversy. Med. J. Aust. , 190, 612-3. PMID: 19485836
- ↑ Grimbizis GF, Gordts S, Di Spiezio Sardo A, Brucker S, De Angelis C, Gergolet M, Li TC, Tanos V, Brölmann H, Gianaroli L & Campo R. (2013). The ESHRE-ESGE consensus on the classification of female genital tract congenital anomalies. Gynecol Surg , 10, 199-212. PMID: 23894234 DOI.
- ↑ Amann RP & Veeramachaneni DN. (2007). Cryptorchidism in common eutherian mammals. Reproduction , 133, 541-61. PMID: 17379650 DOI.
- ↑ Norman RJ, Wu R & Stankiewicz MT. (2004). 4: Polycystic ovary syndrome. Med. J. Aust. , 180, 132-7. PMID: 14748678
- ↑ Ren X, Wu D & Gong C. (2017). Persistent Müllerian duct syndrome: A case report and review. Exp Ther Med , 14, 5779-5784. PMID: 29285121 DOI.
Genital System Terms (expand to view) |
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Note there are additional glossaries associated with spermatozoa, oocyte renal.
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Cite this page: Hill, M.A. (2024, March 29) Embryology BGDB Sexual Differentiation - Abnormalities. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/BGDB_Sexual_Differentiation_-_Abnormalities
- © Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G