Cryptorchidism, and Hirsutism

Diseases related with Cryptorchidism and Hirsutism

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

Top matches:

17-beta-hydroxysteroid dehydrogenase isozyme 3 (17betaHSD III) deficiency is a rare disorder leading to male pseudohermaphroditism (MPH), a condition characterized by incomplete differentiation of the male genitalia in 46X,Y males.

46,XY DISORDER OF SEX DEVELOPMENT DUE TO 17-BETA-HYDROXYSTEROID DEHYDROGENASE 3 DEFICIENCY Is also known as 17-ketosteroidreductase deficiency|17-ketosteroid reductase deficiency of testis|pseudohermaphroditism, male, with gynecomastia|17-ketoreductase deficiency|17-ksr deficiency|neutral 17-beta-hydroxysteroid oxidoreductase deficiency|17-beta-hydroxysteroid d

Related symptoms:

  • Cryptorchidism
  • Abnormality of metabolism/homeostasis
  • Hypothyroidism
  • Infertility
  • Hirsutism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 46,XY DISORDER OF SEX DEVELOPMENT DUE TO 17-BETA-HYDROXYSTEROID DEHYDROGENASE 3 DEFICIENCY

Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.

AUTOSOMAL DOMINANT POPLITEAL PTERYGIUM SYNDROME Is also known as facio-genito-popliteal syndrome|popliteal web syndrome

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Thin upper lip vermilion


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT POPLITEAL PTERYGIUM SYNDROME

Medium match AROMATASE DEFICIENCY

Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.

AROMATASE DEFICIENCY Is also known as pseudohermaphroditism, female, due to placental aromatase deficiency|congenital estrogen deficiency

Related symptoms:

  • Growth delay
  • Pain
  • Cryptorchidism
  • Obesity
  • Delayed skeletal maturation


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AROMATASE DEFICIENCY

Other less relevant matches:

Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias.

CONGENITAL ADRENAL HYPERPLASIA DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY Is also known as cah due to 3-beta-hydroxysteroid dehydrogenase deficiency

Related symptoms:

  • Cryptorchidism
  • Feeding difficulties
  • Vomiting
  • Hypospadias
  • Delayed skeletal maturation


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL ADRENAL HYPERPLASIA DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY

Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.

CONGENITAL ADRENAL HYPERPLASIA DUE TO 11-BETA-HYDROXYLASE DEFICIENCY Is also known as cah due to 11-beta-hydroxylase deficiency|cyp11b1 deficiency

Related symptoms:

  • Short stature
  • Feeding difficulties
  • Hypertension
  • Vomiting
  • Delayed skeletal maturation


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL ADRENAL HYPERPLASIA DUE TO 11-BETA-HYDROXYLASE DEFICIENCY

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about ALAZAMI-YUAN SYNDROME; ALYUS

Sweeney-Cox syndrome is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about SWEENEY-COX SYNDROME; SWCOS

Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement.

BARDET-BIEDL SYNDROME Is also known as bbs

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Nystagmus
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about BARDET-BIEDL SYNDROME

Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophris, large eyes) and optic atrophy have been observed.

CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME Is also known as proud syndrome|microcephaly-corpus callosum agenesis-abnormal genitalia syndrome|acc with abnormal genitalia|acc-abnormal genitalia syndrome|proud-levine-carpenter syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME

SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME Is also known as sbidds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME

Top 5 symptoms//phenotypes associated to Cryptorchidism and Hirsutism

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Generalized hirsutism Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases
Ambiguous genitalia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Cryptorchidism and Hirsutism. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Strabismus Osteoporosis Delayed speech and language development Clitoral hypertrophy Microcephaly Enlarged polycystic ovaries Ambiguous genitalia, female Feeding difficulties Delayed skeletal maturation Obesity Premature adrenarche Gynecomastia Polycystic ovaries

Rare Symptoms - Less than 30% cases

Accelerated skeletal maturation Primary amenorrhea Hearing impairment Tall stature Insulin resistance Enlarged ovaries Abnormality of the labia majora Ectopic adrenal gland Seizures Reduced bone mineral density Acne Bilateral cryptorchidism Decreased circulating aldosterone level Abnormal vagina morphology Hypertension Hyperkalemia Amenorrhea Scoliosis Decreased circulating cortisol level Renal salt wasting Severe global developmental delay Nystagmus Hypernatriuria Vomiting Hypospadias Primary adrenal insufficiency Generalized hyperpigmentation Short neck Decreased fertility Infertility Generalized hypotonia Decreased fertility in males Adrenogenital syndrome Micrognathia Cleft palate Thin upper lip vermilion Decreased fertility in females Finger syndactyly Underdeveloped nasal alae Congenital adrenal hyperplasia Choanal atresia Increased circulating ACTH level Abnormality of the menstrual cycle Hypovolemia Urogenital sinus anomaly Bifid scrotum Hyperpigmented genitalia Narrow chest Synophrys Abnormal facial shape Short columella Male pseudohermaphroditism Hypogonadism Adrenocorticotropic hormone excess Low anterior hairline Wide nasal bridge Long philtrum Growth delay Hyperactivity Narrow mouth Neonatal hypotonia Prominent nasal bridge Hyponatremia Postaxial hand polydactyly Pigmentary retinopathy Cupped ear Neurological speech impairment Overfolded helix Midface retrusion Cerebellar hypoplasia Brachycephaly Gastroesophageal reflux Craniosynostosis Microtia Short philtrum Talipes Anal atresia Wide anterior fontanel Cutaneous syndactyly Bilateral talipes equinovarus Low-set, posteriorly rotated ears Long fingers Prominent metopic ridge Short clavicles Broad neck Asplenia Widow's peak Velopharyngeal insufficiency Median cleft palate Upper eyelid coloboma Skeletal muscle atrophy Downslanted palpebral fissures Hypoplasia of penis Motor delay Nephrotic syndrome Deeply set eye Hyperconvex nail Ptosis Depressed nasal bridge Epicanthus Brachydactyly Intrauterine growth retardation Frontal bossing Abnormality of the skeletal system Anteverted nares Malar flattening Retrognathia Astigmatism Limb joint contracture Thin vermilion border Short foot Broad nasal tip Delayed myelination Short metacarpal Short palpebral fissure Laryngomalacia Short metatarsal Delayed ability to walk Underdeveloped supraorbital ridges Pseudohypoparathyroidism Infra-orbital crease Broad alveolar ridges Abnormal hair pattern Hepatic fibrosis Coarse facial features Multicystic kidney dysplasia Abnormal electroretinogram Hypoplasia of the ovary Medial flaring of the eyebrow Spasticity Flexion contracture Visual impairment Optic atrophy Intellectual disability, severe Inguinal hernia Agenesis of corpus callosum Cerebral cortical atrophy Protruding ear Abnormally large globe Tapered finger Tetraplegia Spastic tetraplegia Abnormality of the genital system Renal dysplasia Intellectual disability, progressive Lissencephaly Renal hypoplasia/aplasia Prominent supraorbital ridges Overlapping toe Abnormality of the hip bone Infantile spasms Syndactyly Abnormality of prenatal development or birth Talipes equinovarus Hyperlipidemia Osteopenia Genu valgum Hepatic steatosis Postural instability Abnormality of the cardiovascular system Type II diabetes mellitus Epidermal acanthosis Bone pain Hypergonadotropic hypogonadism Acanthosis nigricans Pain Male infertility Delayed epiphyseal ossification Macroorchidism Ovarian cyst Eunuchoid habitus Female pseudohermaphroditism Female infertility Macroorchidism, postpubertal Maternal virilization in pregnancy Diabetes mellitus Fibrous syngnathia Delayed puberty Toe syndactyly Hypothyroidism Hypogonadotrophic hypogonadism Impotence Secondary amenorrhea Congenital hypothyroidism Oligospermia Abnormality of the ovary Abnormality of the urethra Joint stiffness Specific learning disability Lip pit Abnormality of the ribs Split hand Abnormality of the nail Scrotal hypoplasia Non-midline cleft lip Hypoplastic labia majora Ankyloblepharon Popliteal pterygium Nonketotic hyperglycinemia Acidosis Hypotension Low-set ears Thick eyebrow Fused labia minora Abnormality of metabolism/homeostasis Accelerated bone age after puberty Female sexual dysfunction Hypervolemia Abnormal circulating aldosterone Early onset of sexual maturation Abnormality of hair growth rate Poor speech Highly arched eyebrow Hypoplasia of the vagina Single transverse palmar crease Prominent nose Wide intermamillary distance Dental crowding Long eyelashes Broad hallux Unilateral cryptorchidism Curly eyelashes Hypertelorism Increased circulating androgen level Decreased circulating renin level Decreased testicular size Abnormal glucose tolerance Dehydration Glucose intolerance Neonatal hypoglycemia Elevated circulating follicle stimulating hormone level Absence of secondary sex characteristics Elevated circulating luteinizing hormone level Ambiguous genitalia, male Perineal hypospadias Increased circulating renin level Female external genitalia in individual with 46,XY karyotype Long penis Abnormal sex determination Androgen insufficiency Abnormal oral glucose tolerance Stroke Hypokalemia Aortic root aneurysm Abnormal EKG Hyperaldosteronism Menstrual irregularities Frontal hirsutism


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