Cryptorchidism, and Sparse hair
Diseases related with Cryptorchidism and Sparse hair
In the following list you will find some of the most common rare diseases related to Cryptorchidism and Sparse hair that can help you solving undiagnosed cases.
Top matches:
Medium match 46,XY DISORDER OF SEX DEVELOPMENT DUE TO TESTICULAR 17,20-DESMOLASE DEFICIENCY
46,XY DISORDER OF SEX DEVELOPMENT DUE TO TESTICULAR 17,20-DESMOLASE DEFICIENCY Is also known as male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase|tdd
Related symptoms:
- Cryptorchidism
- Hernia
- Amenorrhea
- Ambiguous genitalia
- Primary amenorrhea
SOURCES: MESH OMIM ORPHANET MENDELIAN
More info about 46,XY DISORDER OF SEX DEVELOPMENT DUE TO TESTICULAR 17,20-DESMOLASE DEFICIENCYMedium match HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA; HH7
Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}.
HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA; HH7 Is also known as ihh|hypogonadism, isolated hypogonadotropic|idiopathic hypogonadotropic hypogonadism
Related symptoms:
- Hearing impairment
- Sensorineural hearing impairment
- Cleft palate
- Cryptorchidism
- Hypogonadism
More info about HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA; HH7
Medium match DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA14
Related symptoms:
- Hearing impairment
- Micrognathia
- Cleft palate
- Cryptorchidism
- Anemia
More info about DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA14
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Other less relevant matches:
Medium match 46,XY DISORDER OF SEX DEVELOPMENT DUE TO ISOLATED 17,20-LYASE DEFICIENCY
46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels.
Related symptoms:
- Short stature
- Failure to thrive
- Cryptorchidism
- Hypospadias
- Delayed skeletal maturation
More info about 46,XY DISORDER OF SEX DEVELOPMENT DUE TO ISOLATED 17,20-LYASE DEFICIENCY
Medium match OROFACIAL CLEFT 15; OFC15
Related symptoms:
- Hypertelorism
- Abnormal facial shape
- Cryptorchidism
- Low-set ears
- Epicanthus
More info about OROFACIAL CLEFT 15; OFC15
Medium match 46,XY PARTIAL GONADAL DYSGENESIS
46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.
46,XY PARTIAL GONADAL DYSGENESIS Is also known as 46,xy partial testicular dysgenesis|46,xy pgd
Related symptoms:
- Cryptorchidism
- Abnormality of cardiovascular system morphology
- Hypospadias
- Delayed skeletal maturation
- Osteoporosis
More info about 46,XY PARTIAL GONADAL DYSGENESIS
Medium match XQ27.3Q28 DUPLICATION SYNDROME
Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.
XQ27.3Q28 DUPLICATION SYNDROME Is also known as trisomy xq27.3q28|dup(x)(q27.3q28)|xq27.3-q28 microduplication syndrome|trisomy xq27.3-q28
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Growth delay
SOURCES: OMIM ORPHANET MENDELIAN
More info about XQ27.3Q28 DUPLICATION SYNDROMEMedium match NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM
NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM Is also known as isolated congenital gonadotropin deficiency|normosmic idiopathic hypogonadotropic hypogonadism|gonadotropic deficiency|nihh
Related symptoms:
- Hypertelorism
- Cleft palate
- Cryptorchidism
- Depressed nasal bridge
- Abnormality of the dentition
More info about NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM
Medium match HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1
Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia.'For information on the autosomal forms of hypogonadotropic hypogonadism with or without anosmia, see {147950}.
HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1 Is also known as anosmic hypogonadism|hha|kallmann syndrome 1|dysplasia olfactogenitalis of de morsier|hypogonadotropic hypogonadism and anosmia|kms|kal1
Related symptoms:
- Hearing impairment
- Ataxia
- Sensorineural hearing impairment
- Cleft palate
- Cryptorchidism
SOURCES: ORPHANET OMIM MENDELIAN
More info about HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1Medium match CONGENITAL ADRENAL HYPERPLASIA DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension.
CONGENITAL ADRENAL HYPERPLASIA DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY Is also known as combined 17-hydroxylase/17,20-lyase deficiency|cah due to 17-alpha-hydroxylase deficiency
Related symptoms:
- Short stature
- Failure to thrive
- Cryptorchidism
- Hypertension
- Hypospadias
More info about CONGENITAL ADRENAL HYPERPLASIA DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY
Top 5 symptoms//phenotypes associated to Cryptorchidism and Sparse hair
| Symptoms // Phenotype | % cases |
|---|---|
| Gynecomastia | Common - Between 50% and 80% cases |
| Decreased testicular size | Common - Between 50% and 80% cases |
| Micropenis | Common - Between 50% and 80% cases |
| Primary amenorrhea | Common - Between 50% and 80% cases |
| Sparse pubic hair | Common - Between 50% and 80% cases |
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Other less frequent symptoms
Patients with Cryptorchidism and Sparse hair. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Delayed skeletal maturation Delayed puberty Sparse axillary hair Osteoporosis Hypergonadotropic hypogonadism Sparse body hair Decreased serum testosterone level Absence of secondary sex characteristics Cleft palate Hypoplasia of the uterus Short stature Elevated circulating follicle stimulating hormone level Decreased serum estradiol Elevated circulating luteinizing hormone level Decreased fertility in females Primary gonadal insufficiency Hypoplasia of the vagina Abnormal sex determination Azoospermia Hypospadias Failure to thrive Female external genitalia in individual with 46,XY karyotype Hearing impairment Hypogonadism Male pseudohermaphroditism Hypogonadotrophic hypogonadism
Rare Symptoms - Less than 30% cases
Ambiguous genitalia, male Enlarged polycystic ovaries Dysmenorrhea Decreased fertility in males Ambiguous genitalia Abnormality of creatine metabolism Amenorrhea Decreased circulating androgen level Abnormal facial shape Cleft lip Bulbous nose Eunuchoid habitus Midface retrusion Decreased testosterone in males Increased circulating gonadotropin level Hernia Hypertelorism Adrenal insufficiency Sensorineural hearing impairment Reduced bone mineral density Abnormality of the eye Sparse eyelashes Bimanual synkinesia Microphallus Anosmia Bilateral cryptorchidism Polycystic ovaries Decreased fertility Abnormality of eye movement Pes cavus High palate Female hypogonadism Depressed nasal bridge Ataxia Primary testicular failure Increased female libido Abnormality of body height Absence of pubertal development Non-obstructive azoospermia Hypoplasia of the ovary Anxiety Abnormality of the dentition Depressivity Breast hypoplasia Osteopenia Male hypogonadism Generalized joint laxity Secondary amenorrhea Impotence Camptodactyly Congenital sensorineural hearing impairment Facial asymmetry Abnormality of the voice Wide intermamillary distance Decreased circulating renin level Hypothalamic gonadotropin-releasing hormone deficiency Oral cleft Total anosmia Decreased circulating cortisol level Hyperaldosteronism Abnormal EKG Primary adrenal insufficiency Aortic root aneurysm Increased circulating ACTH level Congenital adrenal hyperplasia Adrenocorticotropic hormone excess Hypervolemia Truncal obesity Generalized hyperpigmentation Hypokalemia Hypertension Leydig cell insensitivity to gonadotropin Ichthyosis Decreased circulating follicle stimulating hormone level Olfactory lobe agenesis Decreased circulating luteinizing hormone level Alobar holoprosencephaly Bilateral renal agenesis Testicular atrophy Abnormal renal morphology Hyposmia Anodontia Unilateral renal agenesis Holoprosencephaly Hypotelorism Renal agenesis Abdominal obesity Gonadal dysgenesis High pitched voice Protruding ear Hyponasal speech Palate fistula Agenesis of lateral incisor Bilateral cleft palate Euryblepharon Ectropion of lower eyelids High anterior hairline Bilateral cleft lip and palate Bilateral cleft lip Ectropion Sparse eyebrow Single transverse palmar crease Upslanted palpebral fissure Hypoplasia of penis Epicanthus Low-set ears Unilateral cryptorchidism Macrocytic anemia Atresia of the external auditory canal Microtia Conductive hearing impairment Downslanted palpebral fissures Anemia Micrognathia Infertility Sex reversal Abnormality of cardiovascular system morphology Nephrotic syndrome Premature ovarian insufficiency Generalized hypotonia Specific learning disability Short foot Small hand Thin vermilion border Small for gestational age Neonatal hypotonia Deeply set eye Obesity Intellectual disability, mild Intrauterine growth retardation Muscular hypotonia Growth delay Global developmental delay Nephroblastoma Intellectual disability Abnormality of the labia Vanishing testis Testicular gonadoblastoma Ovarian gonadoblastoma Abnormal internal genitalia Abnormality of the scrotum Streak ovary Urogenital sinus anomaly Abnormal vagina morphology Gonadoblastoma Male infertility Clitoral hypertrophy Abnormal circulating aldosterone
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