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Urinary, reproductive, and developmental conditions

1,521 articles

Goserelin

Goserelin (ZOLADEX) is a GnRH agonist subcutaneous implant, launched in the UK in 1987 and US-approved 1989, that suppresses testosterone and estrogen to treat prostate cancer, endometriosis, breast cancer, and fibroids preoperatively.

Greig cephalopolysyndactyly syndrome

Greig cephalopolysyndactyly syndrome (GCPS, OMIM 175700) is a rare autosomal dominant disorder caused by GLI3 loss of function at 7p14.1, combining polydactyly, syndactyly, macrocephaly, and hypertelorism.

Greig cephalopolysyndactyly-contiguous gene syndrome

GCPS-CGS is a rare chromosomal deletion syndrome: microdeletions over 1 Mb at 7p encompassing GLI3 cause Greig cephalopolysyndactyly features plus intellectual disability, seizures, and corpus callosum defects.

Growing teratoma syndrome

Growing teratoma syndrome (GTS): rare enlargement of mature teratoma masses during or after chemotherapy for non-seminomatous germ cell tumors despite normalized markers; described by Logothetis in 1982; treated by complete surgical resection.

Growth delay-hydrocephaly-lung hypoplasia syndrome

Growth delay-hydrocephaly-lung hypoplasia syndrome, or Game-Friedman-Paradice syndrome (ORPHA:3035, OMIM 236640), is an ultra-rare autosomal recessive disorder seen in four siblings, marked by fetal growth retardation, hydrocephalus with patent aqueduct of Sylvius, pulmonary hypoplasia, omphalocele, and limb anomalies.

Gumma (pathology)

Gumma (plural gummata): a soft, necrotic granuloma of tertiary syphilis caused by Treponema pallidum, most often in skin, bone, and liver, treated with benzathine penicillin G.

Guttmacher syndrome

Guttmacher syndrome (preaxial deficiency-postaxial polydactyly-hypospadias syndrome, ORPHA:2957, OMIM 176305) is an extremely rare autosomal dominant HOXA13 disorder with hypoplastic thumbs and halluces, hand polydactyly, uniphalangeal second toes without nails, and hypospadias, described in one family.

Gynandroblastoma

Gynandroblastoma, a rare mixed ovarian sex cord-stromal tumor with both granulosa cell (female) and Sertoli-Leydig (male) differentiation; under 1% of sex cord tumors, often DICER1-mutated, FOXL2-wild-type, usually benign.

Gynecomastia

Gynecomastia is benign enlargement of male breast glandular tissue from estrogen excess, androgen deficiency, or drugs, peaking in neonates, puberty, and older men; treated by addressing causes, tamoxifen for recent cases, or surgery.

Haematocolpos

Haematocolpos, also spelled hematocolpos, is the accumulation of menstrual blood in the vagina caused by an obstruction, most often an imperforate hymen, and typically appears at puberty.

Haematoma of broad ligament

Broad ligament haematoma: blood collecting in the broad ligament of the uterus, a rare obstetric emergency (incidence about 1:500 to 1:20,000) caused by tears extending into uterine or vaginal vessels, treated conservatively or surgically.

Haematometra

Haematometra (hemometra, haemometra) is retention of blood in the uterine cavity, usually from outflow obstruction such as imperforate hymen, transverse vaginal septum, or cervical stenosis after procedures; treated by cervical dilatation and drainage.

Haematosalpinx

Haematosalpinx (hematosalpinx, haemosalpinx), blood accumulation in a distended fallopian tube; ICD-11 GA17.3. Most often from ectopic pregnancy; also endometriosis, PID, torsion, neoplasm. Diagnosed by ultrasound and MRI.

Haematuria

Haematuria, also spelled hematuria, is the presence of blood in the urine, classified as visible when it discolors the urine and non-visible when found only on testing.

Haemorrhage in early pregnancy

Haemorrhage in early pregnancy (ICD-11 JA40) is first-trimester vaginal bleeding, including threatened abortion. It affects about 25% of pregnancies; management includes progesterone for prior miscarriage and expectant care.

Hall-Riggs syndrome

Hall-Riggs syndrome (ORPHA:2107, OMIM 234250) is an extremely rare autosomal recessive disorder with microcephaly, facial dysmorphism, spondylometaphyseal dysplasia, severe intellectual disability, and absent speech; eight cases in two families reported since 1975.

Hallermann-Streiff syndrome

Hallermann-Streiff syndrome, also known as François dyscephalic syndrome or oculomandibulofacial syndrome, is a rare genetic disorder marked by bird-like facies, dental abnormalities, sparse hair, short stature, and congenital cataracts.

Hand-foot-genital syndrome

Hand-foot-genital syndrome (HFGS, hand-foot-uterus syndrome, OMIM 140000) is a rare autosomal dominant HOXA13 disorder with short thumbs and great toes plus urogenital defects; fertility is normal.

Hardikar syndrome

Hardikar syndrome (HDKR, cholestasis-pigmentary retinopathy-cleft palate syndrome) is an ultra-rare X-linked dominant MED12 loss-of-function disorder affecting females, with cleft lip/palate, cat's-paw retinopathy, hepatobiliary disease, and normal cognition.

Hayley Okines

Hayley Leanne Okines (1997-2015), English progeria campaigner known as the 100-year-old teenager; wrote Old Before My Time and Young at Heart, joined Boston drug trials, died at 17 of pneumonia.

Health risks and complications of polycystic ovary syndrome

The health risks and complications of polycystic ovary syndrome include infertility, type 2 diabetes, metabolic syndrome, cardiovascular disease, endometrial cancer, obstructive sleep apnea, and depression, driven largely by insulin resistance.

Heavy menstrual bleeding

Heavy menstrual bleeding (HMB, formerly menorrhagia) is excessive menstrual blood loss interfering with quality of life, affecting 20-50% of reproductive-age women. Causes include fibroids, bleeding disorders; LNG-IUS is the best first-line treatment.

HELLP syndrome

HELLP syndrome is a severe pregnancy complication defined by hemolysis, elevated liver enzymes, and low platelets, usually arising with preeclampsia, affecting 0.2 to 0.8 percent of pregnancies and often requiring prompt delivery.

Hematuria

Hematuria, blood in the urine, is gross (visible) or microscopic (≥3 RBC/HPF on urinalysis). Causes range from infection, stones, and BPH to urinary tract cancer; AUA/SUFU guidelines stratify evaluation by malignancy risk.

Hemodialysis

Hemodialysis filters wastes, extra salt, and water from blood through a dialyzer for kidney failure; in-center three times weekly or home schedules; access via AV fistula, graft, or catheter; invented by Willem Kolff in 1943.

Hemofiltration

Hemofiltration, also called CAVH or CVVH in continuous form, is a convective renal replacement technique removing water and middle molecules across a permeable membrane with replacement fluid; first performed by Peter Kramer in 1977 in Göttingen.

Hennekam syndrome

Hennekam syndrome, also called Hennekam lymphangiectasia-lymphedema syndrome, is a rare inherited disorder of lymphatic development featuring congenital lymphedema, intestinal lymphangiectasia, variable intellectual disability, and a distinctive face.

Hepatitis C and HIV coinfection

HIV/HCV coinfection, simultaneous infection with HIV and hepatitis C virus, affects about 21% of US adults with HIV and up to 82% of those who inject drugs; HIV accelerates liver fibrosis, but direct-acting antivirals cure HCV in over 94% of coinfected patients.

Hereditary amyloidosis with primary renal involvement

Hereditary amyloidosis with primary renal involvement (familial renal amyloidosis, Ostertag type, ORPHA:85450) is a group of rare autosomal dominant amyloidoses, subtypes AApoAI, AApoAII, AFib, and ALys, causing proteinuria and progressive renal failure.

Hereditary breast and/or ovarian cancer syndrome

Hereditary breast and/or ovarian cancer syndrome (HBOC), ORPHA:145, is an autosomal dominant cancer-predisposition condition mainly from BRCA1/BRCA2 germline pathogenic variants, also involving PALB2, ATM, CHEK2, RAD51C/D, and BRIP1, raising breast, ovarian, prostate, and pancreatic cancer risk.