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USNWR Diabetes and Endocrinology

 

USNWR Urology

The GUIDE Clinic brings together a team of health care specialists from Genetics, Gynecology, Urology, Psychology, Social Work, Chaplaincy and Endocrinology to provide complete care for young people from birth to 21 years old with congenital adrenal hyperplasia (CAH) and differences of sexual development (DSD).

The GUIDE team understands that individuals with CAH or DSD and their families have complex medical, psychological, social and spiritual needs. We take a collaborative, family-centered approach to care that is personalized and age-appropriate for your child or teen. All our staff members have extensive specialty training in pediatric and adolescent care.

Your care team


Your care team may include clinicians from the following specialties, depending on your child’s unique needs:

G: Genetics and Gynecology

Genetics – Holly Welsh, MS CGC

Gynecology – Julie Strickland MD, MPH,  Anne-Marie Priebe, DO

U: Urology

Urology –  John M. Gatti MD, Joel F. Koenig MD

I: Interdisciplinary

Chaplaincy – Seth Sonneville, MS,M.DIV, BCC

Clinic coordinator - Jeanette Higgins, RN, MSN, CPNP

Clinic liaison - Sarah Wareham RN, CPN

D: Developmental and behavioral

Psychology –  Anna Egan PhD, ABPP

Social Work – Kathryn Boman, LMSW

E: Endocrine

Jill D. Jacobson, MD

You may also receive care from pediatric advanced practice nurses, registered nurses, care assistants, residents and pediatric specialty fellows.

 

 

Services

Nationally ranked by U.S. News & World Report

  • Complex urogenital care
  • Comprehensive collaborative clinical and surgical management
  • Hormonal evaluation and therapy
  • Individualized family support
  • In-depth genetic testing and counseling
  • Minimally invasive surgery and laparoscopy
  • Mental health support and resources for individuals and families
  • Reproductive health care, including fertility counseling and preservation

Conditions we treat

Ambiguous genitalia

This is an older term for differences of sexual differentiation (DSDs) in which the external genitals are not what is typically expected for a boy or girl.

Androgen insensitivity

Androgen insensitivity syndrome is a condition that affects sexual development before and after birth and during puberty. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. Because their bodies are unable to respond to certain male sex hormones (called androgens), they may have mostly female sex characteristics or signs of both male and female sexual development.

Congenital adrenal hyperplasia (CAH)

Congenital adrenal hyperplasia (CAH) refers to a group of inherited disorders of the adrenal glands, which are located above the kidneys. The most common form of CAH is called 21 hydroxylase deficiency. People with this disorder do not make enough of the stress hormone called cortisol. Some people also have problems with dehydration. Some girls with this disorder make too much of the male hormone called testosterone. This can make girls' genitals look masculine. Most males with CAH do not have any genital problems. This disorder can be life-threatening. Treatment involves life-long replacement of the missing adrenal hormones. Most girls with CAH identify as female later in life. Fertility is nearly normal in both boys and girls. Surgery is sometimes required to separate the vagina from the urethra.

Intersex disorders

This is another term for differences of sexual development (DSDs) in which the internal sex organs are not what is typically expected for a boy or girl.

Mixed gonadal dysgenesis

Mixed-gonadal dysgenesis (MGD) is a rare condition in which there is usually a functioning gonad (testis or ovary) on one side and an atypical gonad or "streak" on the other side. The condition has been associated with a variety of chromosomal combinations where some cells may have normal numbers of chromosomes, where others may have too few or too many. The physical appearance of the genitalia is variable, ranging from typical male to typical female, or sometimes in between. Gender of rearing with MGD is individualized, and multiple factors are taken into consideration. Treatment may include surgical reconstruction, removal of precancerous gonads, and hormone replacement therapy.

Ovotesticular DSD

Ovotesticular DSD is a rare condition where there are both ovaries and testes present, sometimes even combined in the same gonad. Previously, the syndrome was referred to as true hermaphroditism. The condition is also associated with a variety of chromosomal combinations, including normal male (46-XY), normal female (46-XX), or a mixture of the two. The physical appearance of the genitalia can be anywhere on the spectrum from normal male to normal female, or somewhere in between. Gender assignment with Ovotesticular DSD is very individualized. There is potential for fertility, but gonads that do not match the chosen gender can cause hormonal problems and possibly carry a risk of tumor development. Biopsy of the gonads is usually necessary for diagnosis. Hormonal replacement therapy may be required at puberty, and surgical reconstruction is generally undertaken at some point.

Vaginal agenesis/Mayer-von-Rokitansky-Kuster-Hauser's syndrome (MRKH)

This syndrome is a condition where the uterus and vagina do not develop normally, but it can sometimes be associated with atypical development of other organs in the body. Girls who have this condition have normal female chromosomes (46,XX) for their gender and have normal growth and development. They may not menstruate when expected.

What to expect at your appointment

 
While the exact length of a visit to the GUIDE clinic varies from person to person, expect to spend approximately 2-3 hours at the clinic.

You will see several different providers during your visit. Because of the complex nature of DSD and CAH, your child will benefit most from a team approach to care. Rather than multiple appointments in different locations, at the GUIDE clinic, you can see all the specialists you need in one place.

It takes many disciplines to come up with a plan of care specific to your child. On a day-to-day basis, these team members work in other specialties throughout the hospital. For your family’s convenience, we have one GUIDE clinic appointment where all the specialists come to you. This helps you get the most comprehensive diagnosis and plan of care, as well as answer your questions and concerns.
 
If additional testing is necessary, it can often be done during your visit.