Category Archives: Related Conditions

Bladder & Kidney Stones

Bladder and kidney stones happen as a result of proteins, calcium, and/or urea concentrating in higher levels than normal in the blood and creating stones when filtered through the kidney, sometimes making it into the bladder. These can be very painful as they “pass” though the kidney, into the ureters, and lodge in the bladder, or get passed out of the body through the urethra on urination. Larger stones can lodge in the kidney, and require a doctor’s attention to be removed.

Urinary Tract Infections

Urinary tract infection or UTI happens when infectious agents make it inside the urethra, sometimes into the bladder, or into the kidneys. There may be a discharge, clear or pus, pain on urination, painful spasm of the bladder, or back pain and high fever if the infection makes it into the kidneys. These all require a doctor’s attention sooner rather than later.

Undescended Testicles

Undescended testes happen when the gonads migrate from inside the pelvis out into the testicular sacs. Sometimes they do not make it all the way from the inside into the sacs. Testes needs to be in the sacs for temperature regulation; they function best when they are less than body temperature. They can not migrate at all, or they can stop somewhere along the way in the inguinal canals. Kids with inguinal testes are told they have a “hernia” and the doctor will do a surgery to put the testes into the sacs. If the testes are left inside the body for too long, they can be harmed by getting overheated, and they may not produce sperm as well or at all.

Other DSDs

Other DSD’s: Recent publications claim there may be 60 different syndromes that can lead to a DSD. CAH, AIS, PAIS, Hypospadias, Epispadias, bladder and cloacal exstrophy, 47 XXY, the enzyme insufficiencies like 5 alpha reductase or 17 beta ketosteroid, MRKH, CHARGE, and other syndromes all may have ambiguous genitalia as part of their presentation.

Ambiguous Genitalia

Ambiguous genitalia look neither male nor female, but instead is a mix of the two, or is a mix when considered with the chromosomes of the individual. This is what is usually referred to when speaking of Intersex or DSD (disorder of sexual development, though clearly agenesis fits here too). A baby with XX or female pattern chromosomes may be born with what looks like a complete penis but empty scrotum. This is the extreme presentation of CAH, congenital adrenal hyperplasia. A baby with XY or male pattern chromosomes may be born with what looks like normal female genitals, but a shallow or “blind” vagina that does not lead to a uterus. This is the presentation of AIS, (complete) androgen insensitivity syndrome. PAIS, partial androgen insensitivity, can lead to an array of genital differences, all along the spectrum between male and female. Incomplete CAH, can lead to a variety of partially masculinized genitals, also all along the spectrum.

Atypical Genitalia

Most resources conflate Atypical and Ambiguous genitalia. Atypical genitalia is probably best described as genitals that are different than what most observers would expect at birth, but unambiguously male or female in appearance. Examples would be labial hypertrophy or “winged labia”, a hydrocele that appears at first glance like a third testis/testicle, or an extended foreskin that appears “droopy” covering the penis and extending well beyond the penis when it is flaccid. Rarely, there will be a doubling of the penis, where the individual appears to have two penises; usually one functions and the other, usually vestigial or smaller organ, does not. None of these require surgery, but often surgery is performed to “correct” the genital difference. Genitals may also be absent, called agenesis, but this is also very rare.