What male condition is classified on the Hamilton-Norwood scale?
"is classified as a form of non-scarring hair loss. The Hamilton–Norwood scale has been developed to grade androgenic alopecia in males. Female-pattern hair loss more often causes diffuse thinning without hairline recession; similar to its male counterpart, female androgenic alopecia rarely leads to total hair loss. The Ludwig scale grades severity of female-pattern hair loss. Research indicates that the initial programming of pilosebaceous units of hair follicles begins ""in utero"". The physiology is primarily androgenic, with dihydrotestosterone (DHT) being the major contributor at the dermal papillae. Men with premature androgenic alopecia tend to have lower than normal values of sex"
"on the Quigley scale) are born phenotypically male, with fully masculinized genitalia; this category of androgen insensitivity is diagnosed when the degree of androgen insensitivity in an individual with a 46,XY karyotype is great enough to impair virilization or spermatogenesis, but is not great enough to impair normal male genital development. MAIS is the mildest and least known form of androgen insensitivity syndrome. The existence of a variant of androgen insensitivity that solely affected spermatogenesis was theoretical at first. Cases of phenotypically normal males with isolated spermatogenic defect due to AR mutation were first detected as the result of male"
"nostrils; loreal region concave; (8) dorsal skin shagreen; (9) no dermal folds on hands, forearms, feet, or tarsus; (10) humeral spine present in male holotype; (11) tympanum oriented posterolaterally with light dorsal inclination; tympanic annulus rather indistinct; supratympanic fold weak; (12) snout-vent length in male holotype 19.0 mm; females unknown; (13) prepollical spine not protruding externally; unpigmented nuptial excrescence Type I; (14) pair of large, round, flat tubercles on ventral surfaces of thighs below vent; other anal ornamentation absent, ventral skin granular and not enameled; (15) first finger longer than second, (16) liver apparently bulbous (but see Discussion); (17) eye"
"phenotypes in these individuals range from a normal male habitus with mild spermatogenic defect or reduced secondary terminal hair, to a full female habitus, despite the presence of a Y-chromosome. AIS is divided into three categories that are differentiated by the degree of genital masculinization: complete androgen insensitivity syndrome (CAIS) is indicated when the external genitalia are that of a normal female; mild androgen insensitivity syndrome (MAIS) is indicated when the external genitalia are that of a normal male, and partial androgen insensitivity syndrome (PAIS) is indicated when the external genitalia are partially, but not fully, masculinized. Androgen insensitivity syndrome"
"hair; grade 6 is indicated when secondary terminal hair is present, whereas grade 7 is indicated when it is absent. The Quigley scale can be used in conjunction with the traditional three classes of AIS to provide additional information regarding the degree of genital masculinization, and is particularly useful when the diagnosis is PAIS. Partial androgen insensitivity syndrome is diagnosed when the degree of androgen insensitivity in an individual with a 46,XY karyotype is great enough to partially prevent the masculinization of the genitalia, but is not great enough to completely prevent genital masculinization. This includes any phenotype resulting from"
"can fall into one of three categories: 1) males that have normal internal and external genitalia, 2) males with external ambiguities, and 3) males that have both internal and external genital ambiguities (true hermaphrodites). External genital ambiguities can include hypospadias, micropenis, and clitoromegaly. On average, the appearance of XX males differs from that of an XY male in that they are smaller in height and weight. Most XX males have small testes, are sterile, and have an increase in maldescended testicles compared to XY males. Some XX male individuals have decreased amounts of body hair and decreased libido. Individuals with"
"18 years of age, poorly developed secondary sexual characteristics, or infertility. In men with CHH, serum levels of inhibin B are typically very low as inhibin B is a marker of Sertoli cell number. For females, CHH is most commonly revealed by primary amenorrhea. Breast development is variable and pubic hair may or may not be present. CHH can be diagnosed in the male neonate with cryptorchidism (maldescended testes) and a micropenis as signs of GnRH deficiency. There are no clear signs of CHH in female neonates Another clinical sign of CHH, more specifically Kallmann syndrome is a lack of"
"is elevated, and often is horizontal. It occurs annually in about 1 in 4000 males before 25 years of age, is most frequent among adolescents ( 65% of cases presenting between 12 – 18 years of age ), and is rare after 35 years of age. Because it can lead to necrosis within a few hours, it is considered a surgical emergency. Another version of this condition is a chronic illness called intermittent testicular torsion (ITT) which is characterized by recurrent rapid acute onset of pain in one testis which will temporarily assume a horizontal or elevated position in the"
"suggesting a protective role of the male sex-determination chromosome. On the other hand, men with Klinefelter's syndrome (two X chromosomes and one Y chromosome), which causes hypoandrogenism, hyperestrogenism, and a very high incidence of gynecomastia (80%), have a dramatically (20- to 58-fold) increased risk of breast cancer compared to men with one X chromosome, closer to the rate of homogametic females. The incidences of breast cancer in karyotypical men (46,XY karyotype), men with Klinefelter's syndrome (47,XXY karyotype), and karyotypical women (46,XX karyotype) are approximately 0.1%, 3%, and 12.5%, respectively. Individuals with the 46,XY karyotype affected by complete androgen insensitivity syndrome"
"As the syndrome is due to a chromosomal non-disjunction event, the recurrence risk is not high compared to the general population. There has been no evidence found that indicates non-disjunction occurs more often in a particular family. Category Syndromes Category Syndromes XXXY syndrome XXXY syndrome is a genetic disorder characterized by a sex chromosome aneuploidy, where males have two extra X chromosomes. Males typically have only two sex chromosomes, an X and a Y. The presence of one Y chromosome with a functioning SRY gene causes the expression of genes that determine maleness. Because of this, XXXY syndrome only affects"
"have a low serum testosterone level, but high serum follicle-stimulating hormone and luteinizing hormone levels. Despite this misunderstanding of the term, however, XXY men may also have microorchidism (i.e., small testicles). The testicle size of affected males are usually less than 2 cm in length (and always shorter than 3.5 cm), 1 cm in width, and 4 ml in volume. XXY males are also more likely than other men to have certain health problems that typically affect females, such as autoimmune disorders, breast cancer, venous thromboembolic disease, and osteoporosis. In contrast to these potentially increased risks, rare X-linked recessive conditions"
"which can be caused by a mutation in an autosomal or X chromosomal gene. The masculinization of XX males is variable. This syndrome is diagnosed through various detection methods and occurs in approximately 1:20 000 newborn males, making it much less common than Klinefelter syndrome. Treatment is medically unnecessary, although some individuals choose to undergo treatments to make them appear more male or female. XX male syndrome is not to be confused with sex determination in some non-human mammal species that lack a Y chromosome at all, such as the Transcaucasian mole vole (""Ellobius lutescens""). The appearance of XX males"
"1,000 live male births. It is named after Harry Klinefelter, who identified the condition in the 1940s. In 1956, identification of the extra X chromosome was first noticed. Mice can also have the XXY syndrome, making them a useful research model. While XXY males can possibly be characterised based on physical characteristics, substantial variation in physical and developmental traits mean the only reliable method of positive or negative identification is karyotype testing. As babies and children, XXY males may have weaker muscles and reduced strength. As they grow older, they tend to become taller than average. They may have less"
"that in fourteen prenatally diagnosed 47,XYY boys (from high socioeconomic status families), IQ scores available for six boys ranged from 100–147 with a mean of 120. For the eleven of fourteen boys with siblings, in nine instances their siblings were stronger academically, but in one case the subject was performing equal to, and in another case superior to, his siblings. Some medical geneticists question whether the term ""syndrome"" is appropriate for this condition because many people with this karyotype appear normal. XYY syndrome XYY syndrome is a genetic condition in which a male has an extra Y chromosome. Symptoms are"
"infertility of that individual. Hypergonadotrophic hypogonadism is a condition in which the function of the testes in males is reduced and can result in low levels of sex steroids produced like testosterone. Males with 48, XXXY can have average or tall stature, which becomes more prominent in adulthood. Facial dysmorphism is common in males with 48, XXXY and can include increased distance between the eyes (hypertelorism), skin folds of the upper eyelid (epicanthal folds), up-slanting opening between the eyelids (palpebral fissures) and hooded eyelids. Other physical features include the fifth finger or ""pinkish"" to be bent inwards towards the fourth"
"al. reported a 43-year-old male patient with schizophrenia, as well as other neurological disorders, and severe pinnae calcification. Additional symptoms included hearing loss, stiffened joints, and facial deformities. In 2006, Mathijssen et al. described an adult male mentally retarded patient who had calcified pinnae and a neoplasm of the palate. The patient also had extensive hearing loss, little to no body hair, distorted facial features, and joint contractures. The patient also developed testicular cancer, but it is unknown whether or not it is related to the syndrome. The patient experienced cryptorchidism, a birth defect where one of the testes is"
"individuals showing genital abnormalities or intersex characteristics. A significantly higher than normal number of other developmental abnormalities are also found in individuals with X0/XY mosaicism. Psychomotor development is normal. Although similar in some ways to true hermaphroditism, the conditions can be distinguished histologically and by karyotyping. The observable characteristics (phenotype) of this condition are highly variable, ranging from gonadal dysgenesis in males, to Turner-like females and phenotypically normal males. The phenotypical expression may be ambiguous, intersex, or male or female depending on the extent of the mosaicism. The most common presentation of 45,X/46,XY karyotype is phenotypically normal male, next being"
"""defective masculinization"". Grade 1 is indicated when the external genitalia is fully masculinized, and corresponds to mild androgen insensitivity syndrome. Grades 6 and 7 are indicated when the external genitalia is fully feminized, corresponding to complete androgen insensitivity syndrome. Grades 2 through 5 quantify four degrees of decreasingly masculinized genitalia that lie in the interim. Grades 2 through 5 of the Quigley scale quantify four degrees of increasingly feminized genitalia that correspond to partial androgen insensitivity syndrome. Grade 7 is indistinguishable from grade 6 until puberty, and is thereafter differentiated by the presence of secondary terminal hair. Grade 6 is"
"normal phenotypic females as in complete 46 XY sex reversal. An atypical form of the disease with absence of bowed limbs is called, prosaically, acampomelic campomelic dysplasia (ACD) and is found in about 10% of patients, particularly those surviving the neonatal period. While the definitive presentation of the disease is a patient having bowed lower limbs and sex reversal in 46,XY males, there are other clinical criteria that can be used, absent these characteristics, to make the diagnosis. Patients may present with underdeveloped shoulder blades, shortened and angulated lower limbs, a vertically oriented and narrow pelvis, an enlarged head, an"
"have ambiguous genitalia than are people with the SRY-positive form. Cytogenetic testing shows the presence of the 46,XX karyotype. At puberty, most affected individuals require treatment with the male sex hormone testosterone to induce development of male secondary sex characteristics such as facial hair and deepening of the voice (masculinization). Hormone treatment can also help prevent breast enlargement (gynecomastia). Adults with this disorder are usually shorter than average for males and are unable to have children (infertile). Approximately 1 in 20,000 individuals with a male appearance have 46,XX testicular disorder. 46,XX testicular disorders of sex development 46,XX testicular disorders of"
"by aspiration of blood from the corpora cavernosa. If this is not sufficient, the corpus cavernosum may be irrigated with cold normal saline or injected with phenylephrine. Nonischemic priapism is often treated with cold packs and compression. Surgery may be done if usual measures are not effective. In ischemic priapism, the risk of permanent scarring of the penis begins to increase after four hours and definitely occurs after 48 hours. Priapism occurs in about 1 in 20,000 to 1 in 100,000 males per year. Priapism is classified into three groups: ischemic (low-flow), nonischemic (high-flow), and recurrent ischemic. The majority of"
"required, and, if necessary, an orchidopexy (relocation of the undescended testes to the scrotum) may be performed as well. Leydig cell hypoplasia Leydig cell hypoplasia (or aplasia) (LCH), also known as Leydig cell agenesis, is a rare autosomal recessive genetic and endocrine syndrome affecting an estimated 1 in 1,000,000 genetic males. It is characterized by an inability of the body to respond to luteinizing hormone (LH), a gonadotropin which is normally responsible for signaling Leydig cells of the testicles to produce testosterone and other androgen sex hormones. The condition manifests itself as pseudohermaphroditism (partially or fully underdeveloped genitalia), hypergonadotropic hypogonadism"
"i.e. other than XX (female) or XY (male). Formally, X chromosome monosomy (Turner syndrome, see above) can also be classified as a form of sex chromosome aneuploidy. Klinefelter syndrome is the most common sex chromosome aneuploidy in humans. It represents the most frequent cause of hypogonadism and infertility in men. Most cases are caused by nondisjunction errors in paternal meiosis I. About eighty percent of individuals with this syndrome have one extra X chromosome resulting in the karyotype XXY. The remaining cases have either multiple additional sex chromosomes (48,XXXY; 48,XXYY; 49,XXXXY), mosaicism (46,XY/47,XXY), or structural chromosome abnormalities. The incidence of"
"Barth syndrome Barth syndrome (BTHS), also known as 3-Methylglutaconic aciduria type II, is an X-linked genetic disorder. The disorder, which affects multiple body systems, is diagnosed almost exclusively in males. It is named after Dutch pediatric neurologist Peter Barth. Though not always present, the cardinal characteristics of this multi-system disorder include: cardiomyopathy (dilated or hypertrophic, possibly with left ventricular noncompaction and/or endocardial fibroelastosis), neutropenia (chronic, cyclic, or intermittent), underdeveloped skeletal musculature and muscle weakness, growth delay, exercise intolerance, cardiolipin abnormalities, and 3-methylglutaconic aciduria. It can be associated with stillbirth. Barth syndrome is manifested in a variety of ways at birth."
"males, but 49,XXXXX also exists with similar characteristics. 49,XXXXY 49,XXXXY syndrome is an extremely rare aneuploidic sex chromosomal abnormality. It occurs in approximately 1 out of 85,000 to 100,000 males. Aneuploidy is often fatal, but in this case there is ""X-inactivation"" where the effect of the additional gene dosage due to the presence of extra X chromosomes is greatly reduced. Much like Down syndrome, the mental effects of 49,XXXXY syndrome vary. Impaired speech and behavioral problems are typical. Those with 49,XXXXY syndrome tend to exhibit infantile secondary sex characteristics with sterility in adulthood and have some skeletal anomalies. Skeletal anomalies"
"based upon a clinical evaluation, a detailed patient history, and identification of characteristic features. Molecular genetic testing for mutations in the HDAC8 gene is now available to confirm the diagnosis. The Wilson–Turner syndrome is characterized by mild to moderate range of intellectual disability, obesity, tapered fingers, and mood swings. Males also suffer from gynecomastia and hypogonadism. In order to be diagnosed with Wilson-Turner Syndrome, male patients must suffer from intellectual disability, obesity, and gynecomastia. Females do not necessarily have to have noticeable phenotype but can be diagnosed with this disorder by studying her family history and identifying others with the"
"Sertoli cell-only syndrome Sertoli cell-only syndrome (a.k.a. Del Castillo syndrome and germ cell aplasia ) is a disorder characterized by male sterility without sexual abnormality. It describes a condition of the testes in which only Sertoli cells line the seminiferous tubules. Sertoli cell-only syndrome patients normally have normal secondary male features and have normal or small-sized testes. Sertoli cell-only syndrome is likely multifactorial, and is characterized by severely reduced or absent spermatogenesis despite the presence of both Sertoli and Leydig cells. A substantial subset of men with this uncommon syndrome have microdeletions in the Yq11 region of the Y chromosome,"
"the external genitalia is partially, but not fully masculinized. Androgen insensitivity syndrome is the largest single entity that leads to 46,XY undermasculinization. Individuals with complete androgen insensitivity syndrome (grades 6 and 7 on the Quigley scale) are born phenotypically female, without any signs of genital masculinization, despite having a 46,XY karyotype. Symptoms of CAIS do not appear until puberty, which may be slightly delayed, but is otherwise normal except for absent menses and diminished or absent secondary terminal hair. Axillary hair (i.e. armpit hair) fails to develop in one third of all cases. External genitalia is normal, although the labia"
"condition are born with ambiguous genitalia and a severely underdeveloped or even absent prostate gland. In addition, at the time of puberty, such males develop normal musculature, voice deepening, and libido, but have reduced facial hair, a female pattern of body hair (i.e., largely restricted to the pubic triangle and underarms), no incidence of male pattern hair loss, and no prostate enlargement or incidence of prostate cancer. They also notably do not develop gynecomastia as a consequence of their condition. An animal study found that two different kinds of androgen response elements could differentially respond to testosterone and DHT upon"
"process in male development. Mutations lead to the skeletal malformation syndrome campomelic dysplasia, frequently with autosomal sex-reversal and cleft palate. SOX9 sits in a gene desert on 17q24 in humans. Deletions, disruptions by translocation breakpoints and a single point mutation of highly conserved non-coding elements located > 1 Mb from the transcription unit on either side of SOX9 have been associated with Pierre Robin Sequence, often with a cleft palate. Mutations in Sox9 or any associated genes can cause reversal of sex and hermaphroditism (or intersexuality in humans). If Fgf9, which is activated by Sox9, is not present, a fetus"
"the body. In the condition, circulating testosterone levels are within or slightly above the normal male range, but DHT levels are low (around 30% of normal), and the ratio of circulating testosterone to DHT is greatly elevated (at about 3.5 to 5 times higher than normal). Genetic males (46,XY) with 5α-reductase type II deficiency are born with undervirilization including pseudohermaphroditism (ambiguous genitalia), pseudovaginal perineoscrotal hypospadias, and usually undescended testes. Their external genitalia are female-like, with micropenis (a small, clitoris-like phallus), a partially unfused, labia-like scrotum, and a blind-ending, shallow vaginal pouch. Due to their lack of conspicuous male genitalia, genetic"
"published reports of EIS, involving a total of five individuals. The reports include a male case published in 1994, a female case published in 2013, and a familial case involving two sisters and a brother which was published in 2016. EIS is analogous to androgen insensitivity syndrome (AIS), a condition in which the androgen receptor (AR) is defective and insensitive to androgens, such as testosterone and dihydrotestosterone (DHT). The functional opposite of EIS is hyperestrogenism, for instance that seen in aromatase excess syndrome. In 1994, a 28-year-old man with EIS was reported. He was fully masculinized. At 204 cm, he"
"Isolated 17,20-lyase deficiency Isolated 17,20-lyase deficiency (ILD), also called isolated 17,20-desmolase deficiency, is a rare endocrine and autosomal recessive genetic disorder which is characterized by a complete or partial loss of 17,20-lyase activity and, in turn, impaired production of the androgen and estrogen sex steroids. The condition manifests itself as pseudohermaphroditism (partially or fully underdeveloped genitalia) in males, in whom it is considered to be a form of intersex, and, in both sexes, as a reduced or absent puberty/lack of development of secondary sexual characteristics, resulting in a somewhat childlike appearance in adulthood (if left untreated). Unlike the case of"