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Hyper-androgenism
Hyperandrogenism is a condition where individuals assigned female at birth have higher-than-normal levels of androgens. These hormones,...

Cedars Sinai
Dec 2, 20244 min read
Cytochrome b5 Deficiency
Cytochrome b5 deficiency is a rare metabolic disorder with significant effects on the body’s functions. Although it is not widely...

Cedars Sinai
Nov 27, 20243 min read
Gonadal Dysgenesis
Gonadal dysgenesis can seem like an overwhelming diagnosis, but knowledge is power. This group of disorders affects the development of...

Cedars Sinai
Nov 27, 20244 min read
Estrogen Insensitivity Syndrome
Estrogen Insensitivity Syndrome (EIS) is a rare but important condition that affects how the body reacts to estrogen. Estrogen is a key...

Cedars Sinai
Nov 27, 20244 min read
Diphallia
Diphallia, often referred to as penile duplication, is an incredibly rare condition where a male is born with two penises. This anomaly...

Cedars Sinai
Nov 27, 20243 min read
Denys-Drash Syndrome
Denys-Drash syndrome is a rare genetic disorder that affects multiple systems in the body, particularly the kidneys, reproductive organs,...

Cedars Sinai
Nov 27, 20243 min read
Cytochrome P450 Oxidoreductase Deficiency
Cytochrome P450 oxidoreductase (POR) deficiency is a rare genetic condition that affects how the body processes various substances. This...

Cedars Sinai
Nov 27, 20243 min read
Cryptorchidism
Cryptorchidism, or undescended testicles, is a condition that affects 1 in 100 boys at birth. It occurs when one or both testicles fail...

Cedars Sinai
Nov 27, 20243 min read
Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Congenital adrenal hyperplasia (CAH) is a group of inherited disorders characterized by the adrenal glands' inability to produce adequate...

Cedars Sinai
Nov 27, 20243 min read
Congenital Adrenal Hyperplasia Due to 17α-Hydroxylase Deficiency
Congenital adrenal hyperplasia (CAH) is a group of inherited disorders that impact the development and function of the adrenal glands....

Cedars Sinai
Nov 27, 20244 min read
Congenital Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency
Congenital adrenal hyperplasia (CAH) affects the adrenal glands, responsible for producing essential hormones like cortisol and...

Cedars Sinai
Nov 27, 20243 min read
Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Deficiency
Congenital adrenal hyperplasia (CAH) is a group of genetic disorders affecting the adrenal glands. Among the various forms of CAH,...

Cedars Sinai
Nov 27, 20244 min read


Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia ( CAH ) is a collection of autosomal recessive disorders marked by disrupted cortisol production. It...

Cedars Sinai
Nov 27, 20247 min read


Complete Androgen Insensitivity Syndrome
Complete androgen insensitivity syndrome ( CAIS ) is a type of AIS condition where the cell cannot respond to androgens . This...

Cedars Sinai
Nov 27, 202410 min read
Campomelic Dysplasia
Campomelic dysplasia ( CMD ) is a genetic disorder marked by the bowing of long bones and various other skeletal and extraskeletal...

Cedars Sinai
Nov 27, 20243 min read


Bifid Penis
A bifid penis (or double penis ) is a rare congenital defect where two genital tubercles develop. Many species of male marsupials ...

Cedars Sinai
Nov 24, 20241 min read


Barber-Say Syndrome
Barber-Say syndrome (BSS) is an extremely rare congenital disorder characterized by excessive hair growth ( hypertrichosis ), delicate...

Cedars Sinai
Nov 24, 20242 min read


Aromatase Excess Syndrome
Aromatase excess syndrome ( AES or AEXS ) is a rarely diagnosed genetic and endocrine syndrome characterized by an overexpression of...

Cedars Sinai
Nov 24, 20243 min read


Aromatase Deficiency
Aromatase deficiency is an uncommon condition marked by very low or absent levels of the enzyme aromatase activity in the body. It is...

Cedars Sinai
Nov 24, 20244 min read


Aphallia
Aphallia is a congenital malformation where the phallus ( penis or clitoris ) is missing. In males, it is also referred to as penile...

Cedars Sinai
Nov 24, 20242 min read
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