Studies genes behind certain hormone disorders and cleft lip or palate

AI summary

From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.

The trial is looking for people with a reproductive hormone disorder or a cleft lip and/or palate, and their family members. It studies the genes behind these conditions.

Sex

All sexes can join.

Disease stage

Any of these conditions: hypogonadotropic hypogonadism, Kallmann syndrome, adult-onset hypogonadotropic hypogonadism, hypothalamic amenorrhea, polycystic ovarian syndrome, primary gonadal failure, precocious puberty, or cleft lip/palate.

Main reasons for not taking part

• Acute illness or hospitalization
• Pituitary tumors
• Iron overload (hemochromatosis)
• Infiltrative diseases (sarcoidosis)
• Chronic alcohol abuse, illicit drug use or anabolic steroid abuse

The registry criteria, word for word

What the trial wants to find out

The purpose of this study is to explore the genetic basis of reproductive disorders and cleft lip and/or palate.

The 2 groups in the trial

• Patients

  Patients with reproductive disorders with or without cleft lip/palate will be recruited for: * completion of medical questionnaire and review of medical records * family tree (including questions on reproductive disorders and cleft lip/palate) * specimen collection (DNA/RNA) from: serum/plasma/saliva/urine/buccal swab/hair follicles/sperm/skin biopsy * smell testing * hearing test * bone density * brain MRI * kidney, testicular/ovarian ultrasound

• Family members

  Family members of Patients will be recruited for: * completion of medical questionnaire * specimen collection (DNA/RNA) from: serum/plasma/saliva/urine/buccal swab/hair follicles/sperm/skin biopsy * smell testing