Cryptorchidism, and Hypoglycemia

Diseases related with Cryptorchidism and Hypoglycemia

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


Top matches:

Medium match GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY; GCCD4


Familial glucocorticoid deficiency is a rare autosomal recessive disorder characterized by an inability of the adrenal cortex to produce cortisol in response to stimulation by adrenocorticotropic hormone (ACTH). Affected individuals typically present within the first few months of life with symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, hypoglycemia, convulsions, and shock. The disease is life-threatening if untreated (summary by Meimaridou et al., 2012).For a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (OMIM ).

Related symptoms:

  • Seizures
  • Neoplasm
  • Failure to thrive
  • Cryptorchidism
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY; GCCD4

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 DILATED CARDIOMYOPATHY WITH ATAXIA


Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.

DILATED CARDIOMYOPATHY WITH ATAXIA Is also known as mga5|dcma|3-methylglutaconic aciduria type 5|cardiomyopathy, dilated, with ataxia|mga, type v|dcma syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DILATED CARDIOMYOPATHY WITH ATAXIA

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Other less relevant matches:

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 GLYCEROL KINASE DEFICIENCY; GKD


Francke et al. (1987) noted that there are 3 clinically distinct forms of glycerol kinase deficiency: infantile, juvenile, and adult. The infantile form is associated with severe developmental delay, and those with the adult form have no symptoms and are often detected fortuitously.The infantile form of GK deficiency, or the 'GK complex,' results from the Xp21 contiguous gene deletion syndrome (OMIM ) with congenital adrenal hypoplasia (OMIM ) and/or Duchenne muscular dystrophy (DMD ), whereas the juvenile and adult forms have isolated GK deficiency (Walker et al., 1996).

GLYCEROL KINASE DEFICIENCY; GKD Is also known as gk deficiency|hyperglycerolemia|gk1 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCEROL KINASE DEFICIENCY; GKD

Medium match CONGENITAL ADRENAL HYPERPLASIA DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY


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

Medium match INHERITED ISOLATED ADRENAL INSUFFICIENCY DUE TO PARTIAL CYP11A1 DEFICIENCY


Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands.

Related symptoms:

  • Failure to thrive
  • Cryptorchidism
  • Feeding difficulties
  • Vomiting
  • Delayed skeletal maturation


SOURCES: ORPHANET MENDELIAN

More info about INHERITED ISOLATED ADRENAL INSUFFICIENCY DUE TO PARTIAL CYP11A1 DEFICIENCY

Medium match WEBB-DATTANI SYNDROME; WEDAS


Webb-Dattani syndrome is an autosomal recessive disorder characterized by frontotemporal hypoplasia, globally delayed development, and pituitary and hypothalamic insufficiency due to hypoplastic development of these brain regions. Patients present soon after birth with multiple pituitary hormonal deficiencies and subsequently develop microcephaly, seizures, and spasticity. Other features include postretinal blindness and renal abnormalities (summary by Webb et al., 2013).

WEBB-DATTANI SYNDROME; WEDAS Is also known as hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about WEBB-DATTANI SYNDROME; WEDAS

Medium match RENAL AGENESIS, BILATERAL


Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.

RENAL AGENESIS, BILATERAL Is also known as renal aplasia|renal adysplasia|hereditary renal aplasia|renal agenesis|hra

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL AGENESIS, BILATERAL

Top 5 symptoms//phenotypes associated to Cryptorchidism and Hypoglycemia

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Vomiting Uncommon - Between 30% and 50% cases
Renal salt wasting Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hyponatremia Delayed puberty Adrenal hypoplasia Dehydration Primary adrenal insufficiency Hypotension Decreased testicular size Growth delay Decreased circulating cortisol level Decreased circulating aldosterone level Osteoporosis Acidosis Intellectual disability Hypernatriuria Increased circulating renin level Neonatal hypoglycemia Hyperkalemia Adrenal insufficiency Hypothyroidism

Rare Symptoms - Less than 30% cases


Clitoral hypertrophy Ambiguous genitalia, male Adrenocorticotropic hormone excess Hyperpigmentation of the skin Adrenocortical hypoplasia Hypovolemia Congenital adrenal hypoplasia Increased circulating ACTH level Perineal hypospadias Congenital adrenal hyperplasia Urogenital sinus anomaly Abnormal vagina morphology Elevated circulating luteinizing hormone level Hypertelorism Absence of secondary sex characteristics Elevated circulating follicle stimulating hormone level Male pseudohermaphroditism Neoplasm Generalized hyperpigmentation Muscular dystrophy Decreased fertility Accelerated skeletal maturation Gynecomastia Reduced bone mineral density Abnormality of the kidney Delayed skeletal maturation Coma Cardiomyopathy Short stature Anemia Micropenis Precocious puberty Primary amenorrhea Diabetes insipidus Shock Cleft palate Female external genitalia in individual with 46,XY karyotype Premature birth Azoospermia Muscle weakness Feeding difficulties Retrognathia Low-set ears Abnormal facial shape Hypospadias Abnormal sex determination Diastasis recti Enlarged kidney Nevus flammeus Hemihypertrophy Visceromegaly Abnormality of the ureter Rhabdomyosarcoma Congenital hypothyroidism Omphalocele Large for gestational age Abnormal heart morphology Midshaft hypospadias Abnormal urine potassium concentration Induced vaginal delivery Delayed speech and language development Hepatomegaly Ventricular septal defect Splenomegaly Clinodactyly Inguinal hernia Nephroblastoma Polyhydramnios Umbilical hernia Autistic behavior Facial asymmetry Macroglossia Overgrowth Anterior creases of earlobe Abnormality of the face Abnormality of the outer ear Abdominal wall defect Deeply set eye Embryonal neoplasm Breech presentation Oligohydramnios Renal hypoplasia Depressed nasal ridge Renal dysplasia Multicystic kidney dysplasia Abnormal intestine morphology Abnormality of the genitourinary system Polycystic kidney dysplasia Unilateral renal agenesis Tracheoesophageal fistula Non-midline cleft lip Bicornuate uterus Pulmonary hypoplasia Vaginal atresia Abnormality of female internal genitalia Bilateral renal agenesis Abnormal sacrum morphology Bilateral renal hypoplasia Nonketotic hypoglycemia Urogenital fistula Potter facies Urethral obstruction Sirenomelia Bilateral renal dysplasia Renal agenesis Falls Auricular pit Delayed myelination Microcephaly Spasticity Hypoplasia of the corpus callosum Blindness Prominent forehead Gastroesophageal reflux Abnormality of the Leydig cells Hydronephrosis Hip dislocation Severe global developmental delay Vesicoureteral reflux Growth hormone deficiency Talipes Postnatal microcephaly Cerebral palsy Pituitary hypothyroidism Neurogenic bladder Central hypothyroidism Hypernatremia Hypertension Epicanthus Talipes equinovarus Abnormality of cardiovascular system morphology Proteinuria Low maternal serum estriol Decreased fertility in females Abnormality of prenatal development or birth Normochromic microcytic anemia 3-Methylglutaconic aciduria Microvesicular hepatic steatosis Nonprogressive cerebellar ataxia Glutaric aciduria Testicular dysgenesis Noncompaction cardiomyopathy 3-Methylglutaric aciduria Penile hypospadias Hearing impairment Hypokinesia Hypogonadism Asthma Hypogonadotrophic hypogonadism Schizophrenia Adrenal hyperplasia Oligospermia High-frequency hearing impairment Gonadotropin deficiency Long penis Microcytic anemia Prolonged QT interval Abnormal spermatogenesis Motor delay Apathy Jaundice Hypoplasia of penis Abnormality of the hypothalamus-pituitary axis Ectopic posterior pituitary Septo-optic dysplasia Abnormality of the pituitary gland Ataxia Intrauterine growth retardation Abnormality of the genital system Optic atrophy Congestive heart failure Arrhythmia Postnatal growth retardation Dilated cardiomyopathy Hepatic steatosis Sudden cardiac death Aciduria Mitral regurgitation Hypertrophic cardiomyopathy Absence of pubertal development Generalized bronze hyperpigmentation Androgen insufficiency Enlarged polycystic ovaries Abnormal glucose tolerance Hypoglycemic coma Ambiguous genitalia, female Adrenogenital syndrome Decreased fertility in males Premature adrenarche Enlarged ovaries Abnormal oral glucose tolerance Glucose intolerance Hyperpigmented genitalia Abnormality of the labia majora Ectopic adrenal gland Agenesis of corpus callosum Sex reversal Aplasia of the uterus Adrenal calcification Abnormality of cholesterol metabolism Decreased circulating androgen level Abnormality of the menstrual cycle Bifid scrotum Strabismus Hyperlipidemia Frontal bossing Myopathy Diabetes mellitus Small for gestational age Lethargy Downturned corners of mouth Metabolic acidosis Hypertriglyceridemia Loss of consciousness Acne Pathologic fracture Ketoacidosis Episodic vomiting Increased urinary glycerol Hyperglycerolemia Hirsutism Ambiguous genitalia Insulin resistance Polycystic ovaries Fetal polyuria



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