Cryptorchidism, and Hypothyroidism

Diseases related with Cryptorchidism and Hypothyroidism

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


Top matches:

Medium match 46,XY DISORDER OF SEX DEVELOPMENT DUE TO 17-BETA-HYDROXYSTEROID DEHYDROGENASE 3 DEFICIENCY


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

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

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Other less relevant matches:

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 SEPTOOPTIC DYSPLASIA


Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum (Dattani et al., 1998). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by Webb and Dattani, 2010).Also see {516020.0012} for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance.

SEPTOOPTIC DYSPLASIA Is also known as de morsier syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SEPTOOPTIC DYSPLASIA

Medium match CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY


Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.

CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY Is also known as congenital chronic diarrhea with exudative enteropathy

Related symptoms:

  • Pain
  • Vomiting
  • Diarrhea
  • Acidosis
  • Metabolic acidosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY

Medium match OLIVER-MCFARLANE SYNDROME; OMCS


Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies, including growth hormone (GH ), gonadotropins (see {118860}), and thyroid-stimulating hormone (TSH; see {118850}). Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. Congenital hypogonadism occurs in half of patients, and nearly all have documented hypogonadotropic hypogonadism during puberty, with subsequent reproductive dysfunction. Chorioretinal atrophy is typically noted in the first 5 years of life. Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015).Laurence-Moon syndrome (OMIM ) is an allelic disorder with overlapping features.

OLIVER-MCFARLANE SYNDROME; OMCS Is also known as eyelashes, long, with mental retardation|trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about OLIVER-MCFARLANE SYNDROME; OMCS

Medium match DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE


Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.

DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE Is also known as martin-probst deafness-mental retardation syndrome|x-linked deafness-intellectual disability syndrome syndrome|martin-probst syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE

Medium match GABRIELE-DE VRIES SYNDROME


Gabriele-de Vries syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features. Affected individuals may also have a variety of congenital abnormalities (summary by Gabriele et al., 2017).

GABRIELE-DE VRIES SYNDROME Is also known as yy1 haploinsufficiency syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Micrognathia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about GABRIELE-DE VRIES SYNDROME

Medium match FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY


NPHS14 is an autosomal recessive syndromic form of steroid-resistant nephrotic syndrome with multisystemic manifestations. Most affected individuals present in infancy or early childhood with progressive renal dysfunction associated with focal segmental glomerulosclerosis (FSGS) and resulting in end-stage renal disease within a few years. Other infants present with primary adrenal insufficiency. Some patients present in utero with fetal hydrops and fetal demise. Additional features of the disorder can include ichthyosis, acanthosis, adrenal insufficiency, immunodeficiency, and neurologic defects (summary by Prasad et al., 2017 and Lovric et al., 2017).For a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (OMIM ).

FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY Is also known as primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to sgpl1 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY

Top 5 symptoms//phenotypes associated to Cryptorchidism and Hypothyroidism

Symptoms // Phenotype % cases
Hypoglycemia Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Micropenis Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Short stature Hypoplasia of penis Diabetes insipidus Microcephaly Failure to thrive Growth hormone deficiency

Rare Symptoms - Less than 30% cases


Proteinuria Cerebral palsy Ptosis Delayed puberty Ectopic posterior pituitary Septo-optic dysplasia Hypoplasia of the corpus callosum Severe global developmental delay Delayed myelination Nystagmus Strabismus Malar flattening Obesity Thick lower lip vermilion Stage 5 chronic kidney disease Hypocalcemia Hypoalbuminemia Cognitive impairment Peripheral neuropathy Hypogonadism Hearing impairment Micrognathia Sensorineural hearing impairment Abnormal facial shape Abnormality of the dentition Severe short stature Ataxia Hypotension Adrenal insufficiency Primary amenorrhea Congenital hypothyroidism Precocious puberty Hyponatremia Hypogonadotrophic hypogonadism Dehydration Primary adrenal insufficiency Vomiting Gynecomastia Cardiomyopathy Blepharophimosis Wide intermamillary distance Ambiguous genitalia Everted lower lip vermilion Dental malocclusion Wide mouth Renal dysplasia Pancytopenia Renal hypoplasia Amenorrhea Telangiectasia Abnormal dermatoglyphics Bifid scrotum Congenital sensorineural hearing impairment Telangiectasia of the skin Hypoplastic nipples Aplasia/Hypoplasia of the nipples Chordee Hirsutism Intellectual disability, moderate Hypernatriuria Telecanthus Secondary amenorrhea Retinal atrophy Progressive gait ataxia Recurrent hypoglycemia Titubation Alopecia areata Choroideremia Long eyebrows Central heterochromia Hypertelorism Impotence Umbilical hernia Polycystic ovaries Cataract Low-set ears Epicanthus Wide nasal bridge Myopia Intellectual disability, severe Renal insufficiency High palate Hernia Infertility Tremor Feeding difficulties Nephrotic syndrome Generalized hypotonia Edema Immunodeficiency Abnormality of the nervous system Mental deterioration Developmental regression Retinopathy Ichthyosis Focal-onset seizure Epidermal acanthosis Lacrimal duct stenosis Hypertriglyceridemia Lymphopenia Recurrent bacterial infections Glomerulosclerosis Focal impaired awareness seizure Focal segmental glomerulosclerosis Primary hypothyroidism Diffuse mesangial sclerosis Steroid-resistant nephrotic syndrome Congenital nephrotic syndrome Mild intrauterine growth retardation Periorbital fullness Delayed speech and language development Anxiety Intrauterine growth retardation Downslanted palpebral fissures Sensory axonal neuropathy Abnormality of the skeletal system Ventriculomegaly Behavioral abnormality Dystonia Absent speech Posteriorly rotated ears Joint laxity Esophageal atresia Abnormality of the pinna Craniosynostosis Broad forehead Abnormality of the cerebral white matter Facial asymmetry Gliosis Waddling gait Pointed chin Sparse eyebrow Long fingers Chorioretinal atrophy Pigmentary retinopathy Horizontal nystagmus Polydactyly Neurogenic bladder Central hypothyroidism Hypernatremia Visual impairment Fever Talipes equinovarus Syndactyly Agenesis of corpus callosum Neoplasm Autism Hypertrophic cardiomyopathy Abnormality of the eye Abnormality of eye movement Talipes Heterotopia Premature adrenarche Exercise intolerance Optic nerve hypoplasia Short finger Absent septum pellucidum Hypopituitarism Pituitary hypothyroidism Postnatal microcephaly Amniotic constriction ring Shock Increased circulating renin level Renal salt wasting Anemia Jaundice Hyperkalemia Apathy Adrenal hypoplasia Abnormality of the hypothalamus-pituitary axis Abnormality of the pituitary gland Azoospermia Coma Spasticity Hyperpigmentation of the skin Blindness Prominent forehead Gastroesophageal reflux Retrognathia Deeply set eye Hydronephrosis Hip dislocation Vesicoureteral reflux Severe vision loss Panhypopituitarism Long eyelashes Distal muscle weakness Oligospermia Frontal bossing Cerebellar atrophy Alopecia Rod-cone dystrophy Male pseudohermaphroditism Gait ataxia Pallor Sparse hair Small for gestational age Muscle weakness Spastic paraplegia Paraplegia Peripheral axonal neuropathy Retinal degeneration Distal amyotrophy Thick eyebrow Progressive cerebellar ataxia Hypoglycemic coma Sparse scalp hair Clumsiness Abnormality of the ovary Abnormality of metabolism/homeostasis Adrenocorticotropic hormone deficiency Diarrhea Colpocephaly Cavum septum pellucidum Hemianopia Anterior pituitary hypoplasia Optic disc hypoplasia Pituitary dwarfism Bitemporal hemianopia Decreased circulating luteinizing hormone level Decreased circulating follicle stimulating hormone level Pain Acidosis Intractable diarrhea Metabolic acidosis Sepsis Hyperlipidemia Abnormal intestine morphology Hypercholesterolemia Abnormality of the urethra Malnutrition Villous atrophy Protein-losing enteropathy Enterocolitis Absent testis



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