Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Decreased circulating luteinizing hormone level, Cryptorchidism, Congenital adrenal hypoplasia |
OMIM:202150 |
Delayed Puberty, Self-Limited |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... |
OMIM:619613 |
Autism, Susceptibility To, 20 |
|
Reduced social reciprocity |
OMIM:618830 |
Hyperaldosteronism, Familial, Type I |
|
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level |
OMIM:103900 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
Glucocorticoid Resistance, Generalized |
|
Increased circulating ACTH level, Increased serum testosterone level, Increased circulating corti... |
OMIM:615962 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Depression, Decreased circulating dehydroepiandrosterone concentration, Increased circulating cor... |
OMIM:610489 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm... |
OMIM:619755 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... |
OMIM:262600 |
46,Xx Sex Reversal 5 |
|
Increased serum testosterone level |
OMIM:618901 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:614839 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadism, Reduced response to gonadotropin-releasing hormone stimu... |
OMIM:616030 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Premature adrenarche, Precocious puberty, Elevated circulating 17-hydroxyprogesterone concentrati... |
ORPHA:90795 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulat... |
OMIM:614842 |
Polyembryoma |
|
Increased serum serotonin, Abnormal circulating gonadotropin concentration, Increased serum testo... |
ORPHA:180229 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:201910 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Increased serum serotonin, Reduced social reciprocity, Impaired ability to form peer relationships |
OMIM:608636 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating corticosterone level, Decreased circulating aldosterone level, Increased ci... |
OMIM:610600 |
Autoimmune Polyendocrinopathy Type 1 |
|
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... |
ORPHA:3453 |
Gonadoblastoma |
|
Increased serum testosterone level |
ORPHA:206484 |
46,Xy Sex Reversal 5 |
|
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... |
OMIM:613080 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Congenital adren... |
ORPHA:90791 |
Spermatogenic Failure 15 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... |
OMIM:616950 |
Glucocorticoid Deficiency 5 |
|
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test |
OMIM:617825 |
Complete Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Increased serum estradiol, Abnormal circulating f... |
ORPHA:99429 |
Ovarian Fibrothecoma |
|
Increased serum testosterone level, Abnormal circulating hormone concentration |
ORPHA:314478 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
47,Xyy Syndrome |
|
Increased circulating gonadotropin level, Increased serum testosterone level, Reduced social reci... |
ORPHA:8 |
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome |
|
Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentration, Dec... |
OMIM:620651 |
Functioning Gonadotropic Adenoma |
|
Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy... |
ORPHA:91348 |
Adrenocortical Carcinoma |
|
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... |
ORPHA:1501 |
Non-Functioning Pituitary Adenoma |
|
Hypopituitarism, Central adrenal insufficiency, Female hypogonadism, Male hypogonadism, Decreased... |
ORPHA:91349 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia, Reduced social reciprocity |
ORPHA:329249 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... |
OMIM:620303 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... |
OMIM:219080 |
Late-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Increased circulating renin level, Elevated serum 11-deo... |
ORPHA:556037 |
Familial Hyperaldosteronism Type Ii |
|
Abnormal circulating renin, Secretory adrenocortical adenoma, Adrenal hyperplasia, Glucocortocoid... |
ORPHA:404 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Macronodular adrenal ... |
OMIM:615954 |
Familial Hyperaldosteronism Type I |
|
Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldosteronism, Secretory adre... |
ORPHA:403 |
Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... |
OMIM:108420 |
Glucocorticoid Deficiency 3 |
|
Abnormal circulating renin, Increased circulating ACTH level, Decreased circulating aldosterone l... |
OMIM:609197 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Congenital adrenal hyperplasia, Increased serum testosterone level |
ORPHA:96181 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadism, Decreased serum testosterone concentration, Decreased te... |
OMIM:614897 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl... |
OMIM:613986 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... |
ORPHA:90793 |
Early-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Increased circulating renin level, Elevated serum 11-deo... |
ORPHA:556030 |
Cortisone Reductase Deficiency 2 |
|
Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Premature pubarche |
OMIM:614662 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Primary hypercortisolism, Diabetes mellitus, Increased circulating cortisol level, Adrenal hyperp... |
OMIM:615830 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Precocious puberty in males, Congenital adrenal hyperplasia, Increased circulating androstenedion... |
OMIM:202010 |
Spermatogenic Failure 13 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... |
OMIM:615841 |
Periodic Fever, Menstrual Cycle-Dependent |
|
Increased circulating cortisol level |
OMIM:614674 |
Premature Ovarian Failure 17 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... |
OMIM:619146 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:202110 |
Partial Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Abnormal circulating estrogen level, Increased se... |
ORPHA:90797 |
Bdv Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... |
OMIM:619326 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Ty... |
ORPHA:453533 |
Müllerian Aplasia And Hyperandrogenism |
|
Increased serum testosterone level |
ORPHA:247768 |
Hyperaldosteronism, Familial, Type Iii |
|
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level |
OMIM:613677 |
Spermatogenic Failure 14 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... |
OMIM:615842 |
Spermatogenic Failure 44 |
|
Abnormal circulating testosterone concentration |
OMIM:619044 |
Mccune-Albright Syndrome |
|
Precocious puberty, Increased circulating cortisol level, Increased circulating prolactin concent... |
ORPHA:562 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Hypogonadism, Decreased testicular size, Elevated circulating luteinizing hormone level, Decrease... |
OMIM:229070 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Absence of pubertal development, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypo... |
OMIM:614837 |
Ovarian Hyperstimulation Syndrome |
|
Increased circulating gonadotropin level, Increased serum testosterone level |
ORPHA:64739 |
Rabson-Mendenhall Syndrome |
|
Precocious puberty, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Hypothyroidism... |
ORPHA:769 |
Spermatogenic Failure 77 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... |
OMIM:620103 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fasting hyperinsu... |
ORPHA:2298 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... |
OMIM:228300 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Precocious puber... |
ORPHA:90794 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... |
OMIM:308750 |
Spermatogenic Failure, X-Linked, 4 |
|
Decreased serum testosterone concentration, Elevated circulating luteinizing hormone level, Eleva... |
OMIM:301077 |
Familial Hyperaldosteronism Type Iii |
|
Abnormal circulating renin, Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldoster... |
ORPHA:251274 |
Spermatogenic Failure 28 |
|
Decreased serum testosterone concentration, Elevated circulating luteinizing hormone level, Eleva... |
OMIM:618086 |
Pituicytoma |
|
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... |
ORPHA:251623 |
X-Linked Intellectual Disability, Van Esch Type |
|
Male hypogonadism, Absence of secondary sex characteristics, Decreased serum testosterone concent... |
ORPHA:163976 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Decreased testicular size, Hypothalamic gonadotropin-... |
OMIM:308700 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... |
ORPHA:231580 |
Alg6-Cdg |
|
Puberty and gonadal disorders, Increased circulating androgen concentration |
ORPHA:79320 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... |
ORPHA:189427 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... |
OMIM:201810 |
Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... |
ORPHA:786 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Abnormal circulating androgen level, Increased circulating ACTH level, Adrenal hyperplasia, Decre... |
ORPHA:90790 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Decreased serum testosterone concentration, Decreased serum estradiol, Hypothalamic gonadotropin-... |
OMIM:618841 |
X-Linked Intellectual Disability, Cilliers Type |
|
Male hypogonadism, Absence of secondary sex characteristics, Decreased serum testosterone concent... |
ORPHA:163971 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... |
OMIM:610475 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hyperaldosteronism, Abnormal circulating renin, Adrenal hyperplasia |
ORPHA:369929 |
46,Xy Sex Reversal 11 |
|
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Absen... |
OMIM:273250 |
Childhood Disintegrative Disorder |
|
Abnormal emotion, Reduced social reciprocity |
ORPHA:168782 |
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Decreased circulating luteinizing... |
OMIM:619761 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary gonadal insuff... |
ORPHA:90796 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... |
OMIM:614841 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elevated circulating 17-hydroxyprogesterone concentration, Elevated circulating luteinizing hormo... |
ORPHA:95699 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Abnormal social behavior |
ORPHA:444002 |
49,Xxxyy Syndrome |
|
Male hypogonadism, Decreased serum testosterone concentration, Low frustration tolerance, Increas... |
ORPHA:261534 |
Wiedemann-Rautenstrauch Syndrome |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:3455 |
Hsd10 Disease |
|
Abnormal social behavior |
ORPHA:391417 |
Mullerian Aplasia And Hyperandrogenism |
|
Increased circulating dehydroepiandrosterone-sulfate concentration, Increased circulating androst... |
OMIM:158330 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypoplasia of the thymus, Increased serum testosterone level |
OMIM:264090 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Decreased serum testosterone concentration, Emotional lability |
OMIM:609195 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Increased circulating gonadotropin level, Decreased serum testosterone concentration, Hypogonadism |
OMIM:300869 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Decreased c... |
ORPHA:226307 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Delayed... |
ORPHA:52901 |
49,Xyyyy Syndrome |
|
Male hypogonadism, Decreased serum testosterone concentration, Low frustration tolerance, Increas... |
ORPHA:99330 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Adrenal gland agenesis |
OMIM:611812 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:101039 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating aldosterone level, Abnormality of circulating cortisol level, Decreased cir... |
ORPHA:320 |
Ane Syndrome |
|
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... |
ORPHA:157954 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Premature adrenarche, Increased circulating androgen concentration, Diabetes mellitus |
ORPHA:2976 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Streak ... |
ORPHA:168563 |
Cushing Disease |
|
Increased circulating cortisol level, Increased urinary cortisol level, Increased circulating ACT... |
ORPHA:96253 |
Childhood Absence Epilepsy |
|
Depression, Abnormal social behavior |
ORPHA:64280 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Decreased serum testosterone concentration |
ORPHA:101006 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hypogonadism, Emotional lability, Decreased serum testosterone concentration, Irritability |
OMIM:201100 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pulmonary carcinoid tumor, Neuroendocrine neoplasm, Increased circulating cortisol level, Increas... |
ORPHA:99889 |
Meningioma |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Pitu... |
ORPHA:2495 |
Panhypophysitis |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:95513 |
Adenohypophysitis |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:95512 |
48,Xxxy Syndrome |
|
Hypogonadism, Type II diabetes mellitus, Irritability, Abnormal aggressive, impulsive or violent ... |
ORPHA:96263 |
Methemoglobinemia And Ambiguous Genitalia |
|
Elevated circulating luteinizing hormone level, Decreased circulating dehydroepiandrosterone-sulf... |
OMIM:250790 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Depression, Absence of secondary sex characteristics, Absence of pubertal deve... |
ORPHA:432 |
Lamb-Shaffer Syndrome |
|
Abnormal social behavior |
ORPHA:530983 |
Leydig Cell Hypoplasia |
|
Male hypogonadism, Absence of secondary sex characteristics, Decreased serum testosterone concent... |
ORPHA:755 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Decreased serum testosterone concentration, Type I diabetes mellitus, Elevated circulating lutein... |
ORPHA:3044 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Emotional lability, Abnormal social behavior |
ORPHA:309256 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Delay... |
OMIM:305400 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Emotional lability, Abnormal social behavior |
ORPHA:309263 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased serum testosterone conc... |
ORPHA:2959 |
Metachromatic Leukodystrophy, Adult Form |
|
Depression, Emotional lability, Abnormal social behavior |
ORPHA:309271 |
Tetraamelia Syndrome 1 |
|
Adrenal gland agenesis |
OMIM:273395 |
Hydrolethalus Syndrome 1 |
|
Adrenal gland dysgenesis |
OMIM:236680 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Hypothyroidism, Testic... |
ORPHA:465508 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Small pituitary gland, Decreased serum estradiol, Absence of secondary sex characteristics, Decre... |
ORPHA:2232 |
Fg Syndrome Type 1 |
|
Small pituitary gland, Abnormal social behavior |
ORPHA:93932 |
Doors Syndrome |
|
Congenital hypothyroidism, Adrenal hyperplasia |
ORPHA:79500 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Abnormal social behavior |
ORPHA:1020 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Abnormal aggressive, impulsive or violent behavior, Abnormal social behavior, Irritability |
ORPHA:1675 |
Woodhouse-Sakati Syndrome |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... |
ORPHA:3464 |
Prader-Willi Syndrome Due To Translocation |
|
Decreased response to growth hormone stimulation test, Reduced social reciprocity, Hypogonadotrop... |
ORPHA:177907 |
46,Xy Partial Gonadal Dysgenesis |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Absence of secondary s... |
ORPHA:251510 |
Woodhouse-Sakati Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... |
OMIM:241080 |
46,Xx Sex Reversal 2 |
|
Decreased serum testosterone concentration, Elevated circulating luteinizing hormone level, Eleva... |
OMIM:278850 |
Testicular Agenesis |
|
Decreased serum testosterone concentration, Increased circulating gonadotropin level |
ORPHA:325124 |
Tuberous Sclerosis Complex |
|
Depression, Pituitary adenoma, Pheochromocytoma, Parathyroid hyperplasia, Carcinoid tumor, Parath... |
ORPHA:805 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Inappropriate laughter... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Inappropriate laughter... |
ORPHA:363958 |
Steinert Myotonic Dystrophy |
|
Male hypogonadism, Depression, Decreased response to growth hormone stimulation test, Decreased s... |
ORPHA:273 |
Niemann-Pick Disease Type C |
|
Depression, Low frustration tolerance, Abnormal social behavior |
ORPHA:646 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Decreased serum testosterone concentration, Streak ovary, Hypothyroidism, Delayed puberty, Increa... |
ORPHA:1772 |
Alström Syndrome |
|
Precocious puberty in females, Elevated circulating thyroid-stimulating hormone concentration, De... |
ORPHA:64 |
Mend Syndrome |
|
Abnormal social behavior |
ORPHA:401973 |
Williams Syndrome |
|
Precocious puberty, Depression, Type II diabetes mellitus, Overfriendliness, Hypogonadotropic hyp... |
ORPHA:904 |
Robinow Syndrome |
|
Decreased serum testosterone concentration |
ORPHA:97360 |
African Trypanosomiasis |
|
Abnormality of circulating cortisol level, Abnormality of renin-angiotensin system, Abnormal grow... |
ORPHA:3385 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:314647 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Decreased serum testosterone concentration |
ORPHA:495875 |