Growth delay, and Gynecomastia

Diseases related with Growth delay and Gynecomastia

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

Top matches:

Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all.

AROMATASE EXCESS SYNDROME Is also known as aexs|familial hyperestrogenism|hereditary prepubertal gynecomastia|aromatase activity, increased

Related symptoms:

  • Short stature
  • Neoplasm
  • Hypogonadism
  • Falls
  • Gynecomastia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AROMATASE EXCESS SYNDROME

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency is an autosomal recessive disorder of corticosteroid biosynthesis resulting in androgen excess, virilization, and hypertension. The defect causes decreased synthesis of cortisol and corticosterone in the zona fasciculata of the adrenal gland, resulting in accumulation of the precursors 11-deoxycortisol and 11-deoxycorticosterone; the latter is a potent salt-retaining mineralocorticoid that leads to arterial hypertension (White et al., 1991).CAH due to 11-beta-hydroxylase deficiency accounts for approximately 5 to 8% of all CAH cases; approximately 90% of cases are caused by 21-hydroxylase deficiency (OMIM ) (White et al., 1991).

ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY Is also known as p450c11b1 deficiency|adrenal hyperplasia iv|steroid 11-beta-hydroxylase deficiency|11-beta-hydroxylase deficiency|adrenal hyperplasia, hypertensive form

Related symptoms:

  • Short stature
  • Hypertension
  • Hypospadias
  • Decreased testicular size
  • Hyperpigmentation of the skin


SOURCES: OMIM MENDELIAN

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

Other less relevant matches:

Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome (see this term).

CEREBELLAR ATAXIA-HYPOGONADISM SYNDROME Is also known as luteinizing hormone-releasing hormone deficiency with ataxia|gordon-holmes syndrome

Related symptoms:

  • Short stature
  • Ataxia
  • Nystagmus
  • Muscular hypotonia
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about CEREBELLAR ATAXIA-HYPOGONADISM SYNDROME

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

Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.

XQ27.3Q28 DUPLICATION SYNDROME Is also known as trisomy xq27.3q28|dup(x)(q27.3q28)|xq27.3-q28 microduplication syndrome|trisomy xq27.3-q28

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about XQ27.3Q28 DUPLICATION SYNDROME

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

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

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

Deficiency or dysfunction of the leptin receptor, which is associated with loss-of-function mutation(s) in the LEPR gene.

OBESITY DUE TO LEPTIN RECEPTOR GENE DEFICIENCY Is also known as obesity, morbid, nonsyndromic 2

Related symptoms:

  • Intellectual disability
  • Obesity
  • Hypogonadism
  • Aggressive behavior
  • Delayed puberty


SOURCES: ORPHANET OMIM MENDELIAN

More info about OBESITY DUE TO LEPTIN RECEPTOR GENE DEFICIENCY

Top 5 symptoms//phenotypes associated to Growth delay and Gynecomastia

Symptoms // Phenotype % cases
Decreased testicular size Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Delayed puberty Common - Between 50% and 80% cases
Micropenis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Growth delay and Gynecomastia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

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

Rare Symptoms - Less than 30% cases

Abnormality of creatine metabolism Decreased circulating androgen level Ataxia Ambiguous genitalia, male Dysmenorrhea Increased circulating gonadotropin level Decreased fertility in males Intellectual disability Obesity Hypoplasia of the ovary Eunuchoid habitus Enlarged polycystic ovaries Cleft palate Muscular hypotonia Male pseudohermaphroditism Hyperaldosteronism Precocious puberty Polycystic ovaries Hypokalemia Clitoral hypertrophy Hypertension Decreased circulating renin level Congenital adrenal hyperplasia Reduced bone mineral density Facial asymmetry Orthostatic hypotension due to autonomic dysfunction Pes cavus Cleft lip Abnormality of the eye Abnormality of eye movement Oral cleft Sensorineural hearing impairment Decreased proportion of CD4-positive T cells Ichthyosis Renal agenesis Hypotelorism Holoprosencephaly Anosmia High palate Increased female libido Hearing impairment Bilateral cryptorchidism Abnormality of body height Absence of pubertal development Non-obstructive azoospermia Decreased serum leptin Female hypogonadism Breast hypoplasia Male hypogonadism Generalized joint laxity Secondary amenorrhea Decreased T cell activation Impotence Congenital sensorineural hearing impairment Abnormality of the voice Unilateral renal agenesis Anodontia Immune dysregulation Abnormal circulating aldosterone Primary adrenal insufficiency Abnormal EKG Decreased circulating cortisol level Increased circulating ACTH level Adrenocorticotropic hormone excess Hypervolemia Camptodactyly Aortic root aneurysm Aggressive behavior Hypertriglyceridemia Recurrent upper respiratory tract infections Polyphagia Emotional lability Impulsivity Insulin-resistant diabetes mellitus Generalized hyperpigmentation Hyperinsulinemia Bilateral renal agenesis Hyposmia Abnormal renal morphology Growth hormone deficiency Microphallus Testicular atrophy Bimanual synkinesia Pituitary hypothyroidism Total anosmia Alobar holoprosencephaly Decreased circulating luteinizing hormone level Olfactory lobe agenesis Hypothalamic gonadotropin-releasing hormone deficiency Decreased circulating follicle stimulating hormone level Leydig cell insensitivity to gonadotropin Wide intermamillary distance Global developmental delay Anxiety Hemiplegia/hemiparesis Dementia Brachycephaly Neurological speech impairment Abnormality of retinal pigmentation Abnormal electroretinogram Personality changes Supernumerary nipple Behavioral abnormality Abnormality of the hypothalamus-pituitary axis Abnormality of cardiovascular system morphology Ambiguous genitalia Hypoplasia of penis Nephrotic syndrome Nephroblastoma Clinodactyly of the 5th finger Optic atrophy Male infertility Abnormality of the urinary system Falls Acne Menstrual irregularities Isosexual precocious puberty Breast hypertrophy Hyperpigmentation of the skin Adrenal hyperplasia Nystagmus Renal salt wasting Long penis Decreased circulating aldosterone level Ambiguous genitalia, female Adrenogenital syndrome Precocious puberty in males Adrenal insufficiency Gonadal dysgenesis Osteopenia High pitched voice Thin vermilion border Bulbous nose Small hand Short foot Specific learning disability Premature ovarian insufficiency Truncal obesity Neonatal hypotonia Abdominal obesity Primary testicular failure Hypertelorism Depressed nasal bridge Abnormality of the dentition Depressivity Small for gestational age Deeply set eye Gonadoblastoma Testicular gonadoblastoma Abnormal vagina morphology Urogenital sinus anomaly Streak ovary Abnormality of the scrotum Abnormal internal genitalia Ovarian gonadoblastoma Vanishing testis Intellectual disability, mild Abnormality of the labia Neoplasm Generalized hypotonia Abnormal facial shape Intrauterine growth retardation Abnormal hypothalamus morphology


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