Hearing impairment, and Azoospermia

Diseases related with Hearing impairment and Azoospermia

In the following list you will find some of the most common rare diseases related to Hearing impairment and Azoospermia that can help you solving undiagnosed cases.

Top matches:

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 as well as a discussion of oligogenicity of this disorder, see {147950}.

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism
  • Hypogonadism


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA; HH16

Premature ovarian failure-10 (POF10) represents a syndrome characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells.For a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (OMIM ).For a discussion of genetic heterogeneity of age at natural menopause, see MENOQ1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Intellectual disability, mild
  • Hypogonadism


SOURCES: OMIM MENDELIAN

More info about PREMATURE OVARIAN FAILURE 10; POF10

Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.

DEAFNESS-INFERTILITY SYNDROME Is also known as deafness, sensorineural, and male infertility|chromosome 15q15.3 deletion syndrome|dis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DEAFNESS-INFERTILITY SYNDROME

Other less relevant matches:

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 as well as a discussion of oligogenicity of this disorder, see {147950}.

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism
  • Delayed skeletal maturation


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA; HH8

Leukoencephalopathy-dystonia-motor neuropathy syndrome is a peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.

LEUKOENCEPHALOPATHY-DYSTONIA-MOTOR NEUROPATHY SYNDROME Is also known as sterol carrier protein 2 deficiency

Related symptoms:

  • Hearing impairment
  • Peripheral neuropathy
  • Tremor
  • Hypogonadism
  • Abnormal cerebellum morphology


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEUKOENCEPHALOPATHY-DYSTONIA-MOTOR NEUROPATHY SYNDROME

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


SOURCES: ORPHANET MENDELIAN

More info about NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM

Congenital adrenal hypoplasia (AHC) is a rare disorder that can be inherited in an X-linked or autosomal recessive (see {240200}) pattern. In X-linked AHC, primary adrenocortical failure occurs because the adrenal glands lack the permanent adult cortical zone. The remaining cells are termed 'cytomegalic' because they are larger than typical fetal adrenal cells (Hay et al., 1981; Reutens et al., 1999).Patients with AHC usually present in early infancy with primary adrenal failure. Hypogonadotropic hypogonadism (HHG) is a hallmark of the disorder, and is recognized during adolescence because of the absence or interruption of normal pubertal development. Abnormal spermatogenesis has also been observed in these patients. Milder forms of the disease have been described, with adrenal insufficiency sometimes occurring in childhood or even early adulthood. A few cases of partial HHG have been reported (summary by Raffin-Sanson et al., 2013). Transient precocious sexual development in infancy or early childhood can be a prominent feature of AHC (Landau et al., 2010).A contiguous gene syndrome involving a combination of congenital adrenal hypoplasia, glycerol kinase deficiency (OMIM ), and Duchenne muscular dystrophy (DMD ) is caused by deletion of multiple genes on chromosome Xp21 (see {300679}).

CYTOMEGALIC CONGENITAL ADRENAL HYPOPLASIA Is also known as ahch|cytomegalic adrenocortical hypoplasia|x-linked congenital adrenal hypoplasia|adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism|ahc with isolated gonadotropin deficiency|addison disease, x-linked|ahx|ahc with hhg

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Cryptorchidism
  • Vomiting


SOURCES: OMIM ORPHANET MENDELIAN

More info about CYTOMEGALIC CONGENITAL ADRENAL HYPOPLASIA

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; HH1

45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development.

45,X/46,XY MIXED GONADAL DYSGENESIS Is also known as 45,x0/46,xy mgd|45,x0/46,xy mixed gonadal dysgenesis|45,x/46,xy mgd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about 45,X/46,XY MIXED GONADAL DYSGENESIS

Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Top 5 symptoms//phenotypes associated to Hearing impairment and Azoospermia

Symptoms // Phenotype % cases
Cryptorchidism Common - Between 50% and 80% cases
Hypogonadism Common - Between 50% and 80% cases
Delayed puberty Uncommon - Between 30% and 50% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
Primary amenorrhea Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hearing impairment and Azoospermia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Decreased testicular size Micropenis Amenorrhea Gynecomastia Hypogonadotrophic hypogonadism High palate Cleft palate Male infertility Wide intermamillary distance Short stature Delayed skeletal maturation Hypoplasia of the uterus Intellectual disability Infertility Anosmia Hyposmia Gonadotropin deficiency Intellectual disability, mild

Rare Symptoms - Less than 30% cases

Vomiting Hypertelorism Depressed nasal bridge Decreased serum testosterone level Eunuchoid habitus Absence of pubertal development Global developmental delay Low posterior hairline Coarctation of aorta Facial asymmetry Bilateral cryptorchidism Cubitus valgus Nystagmus Epicanthus Abnormality of cardiovascular system morphology Pectus excavatum Low-set, posteriorly rotated ears Bicuspid aortic valve Webbed neck Osteopenia Micrognathia Low-set ears Hypoplasia of the ovary Abnormal spermatogenesis Hypergonadotropic hypogonadism Brachydactyly Seizures Hypothyroidism Hernia Thrombocytopenia Dilatation Prominent eyelashes Clinodactyly Splenomegaly Congestive heart failure Edema Atrial septal defect Headache Constipation Patent ductus arteriosus Abnormal heart morphology Short neck Rod-cone dystrophy Posteriorly rotated ears Abdominal pain Proptosis Polyhydramnios Gastroesophageal reflux Kyphoscoliosis Hypertrophic cardiomyopathy Postnatal growth retardation Sparse hair Cardiomyopathy Myopia Ventricular septal defect Muscle hypertrophy of the lower extremities Urogenital sinus anomaly Unilateral cryptorchidism Epispadias Ambiguous genitalia, female Streak ovary Dyscalculia Penoscrotal hypospadias Ovotestis Abnormality of the scrotum Abnormal internal genitalia Cervix cancer Ovarian serous cystadenoma Downslanted palpebral fissures Microcephaly Growth delay Neoplasm Strabismus Abnormal facial shape Pain Cataract Ptosis Cognitive impairment Feeding difficulties Broad forehead Fever Abnormal cardiac septum morphology Hypotrichosis Leukemia Lymphangioma Arnold-Chiari type I malformation Malignant hyperthermia Drusen Nonimmune hydrops fetalis Atrial flutter Restrictive cardiomyopathy Shield chest Synovitis Schwannoma Multiple lentigines Asymmetry of the thorax Optic disc hypoplasia Hypoplastic aortic arch Abnormality of blood and blood-forming tissues Amegakaryocytic thrombocytopenia Superior pectus carinatum Reduced factor XII activity Neurofibrosarcoma Panuveitis Juvenile myelomonocytic leukemia Loose anagen hair Pectus excavatum of inferior sternum Gonadal neoplasm Reduced factor XIII activity Nasogastric tube feeding Preductal coarctation of the aorta Gonadal dysgenesis Neuroblastoma Ambiguous genitalia, male Plagiocephaly Pulmonic stenosis Bruising susceptibility High, narrow palate Triangular face Abdominal distention Abnormal bleeding Dental malocclusion Ventricular hypertrophy Clumsiness Left ventricular hypertrophy Amblyopia Lymphedema Arnold-Chiari malformation Abnormality of the vertebral column Poor suck Pterygium Elevated alkaline phosphatase Failure to thrive in infancy Patent foramen ovale Myelodysplasia Radial deviation of finger Abnormality of the coagulation cascade Leukocytosis Abnormality of color vision Neurofibromas Cystic hygroma Chordee Congenital glaucoma Gonadoblastoma Muscular dystrophy Breast hypoplasia Decreased testosterone in males Bilateral sensorineural hearing impairment Female hypogonadism Non-obstructive azoospermia Synophrys Abnormality of body height Increased female libido Prominent nasal bridge Failure to thrive Hypoglycemia Asthma Narrow palpebral fissure Dehydration Hyperpigmentation of the skin Accelerated skeletal maturation Shock Schizophrenia Precocious puberty Hyponatremia Adrenal insufficiency Primary adrenal insufficiency Adrenal hypoplasia Adrenal hyperplasia Renal salt wasting Absence of secondary sex characteristics Male hypogonadism Decreased circulating cortisol level Abnormal motor neuron morphology Reduced sperm motility Breast aplasia Peripheral neuropathy Tremor Abnormal cerebellum morphology Intention tremor Torticollis Leukoencephalopathy Head tremor Abnormal saccadic eye movements Abnormality of thalamus morphology Congenital hypoplastic anemia Generalized joint laxity Anemia of inadequate production Abnormality of the dentition Depressivity Osteoporosis Anxiety Camptodactyly Progressive sensorineural hearing impairment Abnormality of the voice Congenital sensorineural hearing impairment Impotence Sparse body hair Secondary amenorrhea Oligospermia High-frequency hearing impairment Short 4th metacarpal Autistic behavior Total anosmia Scoliosis Primary testicular failure Delayed menarche Visual impairment Hypoplasia of the vagina Obesity Hypospadias Elevated circulating luteinizing hormone level Elevated circulating follicle stimulating hormone level Abnormality of the kidney Tachycardia Decreased circulating follicle stimulating hormone level Premature ovarian insufficiency Nail dysplasia Ambiguous genitalia Conductive hearing impairment Recurrent otitis media Horseshoe kidney Short metatarsal Bifid scrotum Hallux valgus Moderate hearing impairment Prolonged QT interval Increased circulating gonadotropin level Leydig cell insensitivity to gonadotropin Hypothalamic gonadotropin-releasing hormone deficiency Long penis Ichthyosis Decreased circulating aldosterone level Congenital adrenal hyperplasia Congenital adrenal hypoplasia Adrenocortical hypoplasia Ataxia Pes cavus Cleft lip Abnormality of the eye Abnormality of eye movement Anemia Oral cleft Renal agenesis Olfactory lobe agenesis Hypotelorism Holoprosencephaly Unilateral renal agenesis Anodontia Sparse pubic hair Abnormal renal morphology Microphallus Testicular atrophy Bimanual synkinesia Bilateral renal agenesis Alobar holoprosencephaly Decreased circulating luteinizing hormone level Postductal coarctation of the aorta


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