Cryptorchidism, and Delayed puberty

Diseases related with Cryptorchidism and Delayed puberty

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


Top matches:

High match CRYPTORCHIDISM, UNILATERAL OR BILATERAL


Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).

CRYPTORCHIDISM, UNILATERAL OR BILATERAL Is also known as undescended testis

Related symptoms:

  • Cryptorchidism
  • Hypogonadism
  • Abnormality of the kidney
  • Infertility
  • Renal agenesis


SOURCES: OMIM MENDELIAN

More info about CRYPTORCHIDISM, UNILATERAL OR BILATERAL

Medium match HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA; HH12


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 12 WITH OR WITHOUT ANOSMIA; HH12 Is also known as figd|eunuchoidism, familial hypogonadotropic|gonadotropin deficiency, familial idiopathic

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA; HH12

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


SOURCES: ORPHANET MENDELIAN

More info about 46,XY DISORDER OF SEX DEVELOPMENT DUE TO ISOLATED 17,20-LYASE DEFICIENCY

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Other less relevant matches:

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


SOURCES: ORPHANET MENDELIAN

More info about 46,XY PARTIAL GONADAL DYSGENESIS

Medium match PITUITARY STALK INTERRUPTION SYNDROME


Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.

PITUITARY STALK INTERRUPTION SYNDROME Is also known as psis|ectopic neurohypophysis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PITUITARY STALK INTERRUPTION SYNDROME

Medium 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


SOURCES: ORPHANET MENDELIAN

More info about NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM

Medium match CYTOMEGALIC CONGENITAL ADRENAL HYPOPLASIA


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

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; HH1

Medium 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


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL ADRENAL HYPERPLASIA DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY

Medium match CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME


CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME Is also known as congenital muscular dystrophy, davignon-chauveau type

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Cryptorchidism
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME

Top 5 symptoms//phenotypes associated to Cryptorchidism and Delayed puberty

Symptoms // Phenotype % cases
Micropenis Common - Between 50% and 80% cases
Decreased testicular size Common - Between 50% and 80% cases
Primary amenorrhea Common - Between 50% and 80% cases
Azoospermia Uncommon - Between 30% and 50% cases
Gynecomastia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Absence of secondary sex characteristics Delayed skeletal maturation Osteoporosis Decreased serum estradiol Decreased serum testosterone level Hypoplasia of the uterus Hypogonadotrophic hypogonadism Hypogonadism Failure to thrive Sparse pubic hair Abnormal sex determination Sparse body hair Sparse axillary hair Elevated circulating follicle stimulating hormone level Elevated circulating luteinizing hormone level Hypergonadotropic hypogonadism Decreased fertility in females Hypoplasia of the vagina Female external genitalia in individual with 46,XY karyotype Hypospadias Primary gonadal insufficiency Hearing impairment Short stature Cleft palate

Rare Symptoms - Less than 30% cases


High palate Abnormality of creatine metabolism Decreased circulating androgen level Decreased circulating cortisol level Hypoplasia of penis Primary adrenal insufficiency Decreased testosterone in males Decreased fertility in males Muscular dystrophy Absence of pubertal development Global developmental delay Eunuchoid habitus Hypoglycemia Generalized joint laxity Adrenal hypoplasia Renal agenesis Adrenal insufficiency Bilateral cryptorchidism Microphallus Decreased fertility Dysmenorrhea Congenital adrenal hyperplasia Enlarged polycystic ovaries Ambiguous genitalia, male Reduced bone mineral density Anosmia Male pseudohermaphroditism Sensorineural hearing impairment Polycystic ovaries Hypoplasia of the ovary Gonadotropin deficiency Leydig cell insensitivity to gonadotropin Facial asymmetry Total anosmia Cleft lip Hypertension Hypokalemia Generalized hyperpigmentation Aortic root aneurysm Abnormal EKG Hyperaldosteronism Decreased circulating follicle stimulating hormone level Alobar holoprosencephaly Hypothalamic gonadotropin-releasing hormone deficiency Oral cleft Increased circulating ACTH level Abnormality of the eye Ichthyosis Abnormality of eye movement Hypotelorism Holoprosencephaly Unilateral renal agenesis Olfactory lobe agenesis Anodontia Hyposmia Abnormal renal morphology Testicular atrophy Bimanual synkinesia Bilateral renal agenesis Decreased circulating luteinizing hormone level Decreased circulating renin level Respiratory insufficiency due to muscle weakness Adrenocorticotropic hormone excess Spinal rigidity EMG: myopathic abnormalities Poor head control Congenital contracture Congenital muscular dystrophy Increased variability in muscle fiber diameter Multiple joint contractures Mildly elevated creatine phosphokinase Weak cry Dry skin Centrally nucleated skeletal muscle fibers Neck muscle weakness Overweight Follicular hyperkeratosis Pes valgus Minicore myopathy Gastrostomy tube feeding in infancy Severe muscular hypotonia Limb muscle weakness Hypervolemia Motor delay Abnormal circulating aldosterone Generalized hypotonia Scoliosis Muscle weakness Flexion contracture Feeding difficulties Delayed speech and language development Respiratory insufficiency Joint laxity Myopathy Pectus excavatum Recurrent respiratory infections Respiratory failure Hyperkeratosis Gastroesophageal reflux Neonatal hypotonia Pes cavus Male hypogonadism Ataxia Intellectual disability Abnormality of the scrotum Abnormal internal genitalia Ovarian gonadoblastoma Testicular gonadoblastoma Vanishing testis Abnormality of the labia Seizures Urogenital sinus anomaly Anemia Hypothyroidism Jaundice Hypotension Diabetes insipidus Abnormality of the hypothalamus-pituitary axis Streak ovary Abnormal vagina morphology Septo-optic dysplasia Abnormality of cardiovascular system morphology Abnormality of the kidney Infertility Unilateral cryptorchidism Delayed menarche Absent pubic hair Decreased circulating gonadotropin level Ambiguous genitalia Gonadoblastoma Nephrotic syndrome Nephroblastoma Clitoral hypertrophy Male infertility Gonadal dysgenesis Increased circulating gonadotropin level Ectopic posterior pituitary Abnormality of the pituitary gland Adrenocortical hypoplasia Adrenal hyperplasia Hyperpigmentation of the skin Accelerated skeletal maturation Shock Schizophrenia Precocious puberty Hyponatremia Renal salt wasting Asthma Oligospermia High-frequency hearing impairment Long penis Decreased circulating aldosterone level Abnormal spermatogenesis Congenital adrenal hypoplasia Dehydration Vomiting Hypertelorism Wide intermamillary distance Depressed nasal bridge Abnormality of the dentition Depressivity Osteopenia Anxiety Camptodactyly Abnormality of the voice Increased female libido Congenital sensorineural hearing impairment Impotence Secondary amenorrhea Breast hypoplasia Female hypogonadism Non-obstructive azoospermia Abnormality of body height Abnormal elasticity of skin



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