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Hypogonadism is the medical name for a condition in which levels of the hormones which control sexual development are lower than normal. There are dozens of different causes of hypogonadism. Many people with hypogonadism have a change in a gene. There are many genes that give instructions for the hormones important for sexual development. Changes in one of these genes that stops the gene from working, can cause hypogonadism. In some of these medical conditions, there are additional features such as learning problems. In this study we will search databases to find all the genetic conditions that can be associated with hypogonadism. We will ask a number of people with changes in certain genes, identified from our search, to come to our research clinic. We will ask them about their health and examine them for signs of hypogonadism. For some, we will take blood samples to test for hypogonadism. This project will help us understand how common hypogonadism is, in people with these genetic changes, which will help with their treatment.
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| Measure | Description | Time Frame |
|---|---|---|
| Measurement of FSH | Blood sample to measure FSH levels. FSH (IU/l) reference range Male, female 0 - 1 month <22.0 Roche 24.01.2011 Male 1 month - 6 years <2.8 Roche 24.01.2011 Male 6 - 11 years <3.8 Roche 24.01.2011 Male 11 - 14 years <4.6 Roche 24.01.2011 Male 14 years + 1.5 - 12 Roche 24.01.2011 Females 1 month - 14 years 0 - 11 Roche 24.01.2011 Follicular phase 3.5 - 13 Roche 24.01.2011 Mid-cycle 4.7 - 22 Roche 24.01.2011 Luteal phase 1.7 - 7.7 Roc | within 1 month of recruitment |
| Measurement of LH | Blood sample to assay LH levels. LH (IU/l) reference range Males 0 - 1 year <3.2 Wiedemann Males 1 - 11 years <1.4 Roche 24.01.2011 Males 11 - 14 years <7.8 Roche 24.01.2011 Males 14 - 17 years 1.3 - 9.8 Roche 24.01.2011 Males 17 years + 1.7 - 8.6 Roche 24.01.2011 Females 0 - 6 years <0.5 Roche 24.01.2011 Females 6 - 11 years <3.1 Roche 24.01.2011 Females 11 - 14 years <11.9 Roche 24.01.2011 Follicular Phase 2.4 - 13 Roche 24.01.2011 Mid - cycle 14 - 96 Roche 24.01.2011 Luteal phase 1.0 - 11 Roche 24.01.2011 Females 60y + (post-menopausal) 7.7 - 59 Roche 24.01.2011 | within 1 month of recruitmen |
| Measurement of testosterone. | Blood assay of testosterone levels in males. Testosterone (nmol/l) Reference range Males, 6 months - 6 years <1.12 Roche 24.01.2011 Males 6 - 13 years <2.37 Roche 24.01.2011 Males 13 - 18 years 0.98 - 38.5 Roche 24.01.2011 Males 18 - 50 years 8.6 - 29 Roche 24.01.2011 Males 50 years + 6.7 - 25.7 Roche 24.01.2011 Females 0 - 1 month 0.7 - 2.2 Soldin 24.01.2011 Females 1 month - 10 years <0.4 Soldin 24.01.2011 Females 10 - 12 years <0.9 Soldin 24.01.2011 Females 12 years + 0.3 - 1.7 Roche 24.01.2011 Females 50 years + 0.1 - 1.4 Roche 24.01.2011 | within 1 month of recruitment. |
| Physical examination for pubertal staging. | Tanner staging standard exam (testicular volume, body hair development, breast development). | within 1- month of recruitment. |
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Inclusion Criteria:
Pathogenic SNV or CNV in neurodevelopmental disorders gene of interest parent or carer consents to study
Exclusion Criteria:
parent or carer does not consent to study
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Individuals with pathogenic CNVs or SNVs in a gene causing a neurodevelopmental disorder.
Especially SOX genes to investigate association with hypogonadism.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Sheffield Childrens Hospital NHS Foundation Trust | Recruiting | Sheffield | Select | S11 9LE | United Kingdom |
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| General medical examination. | Height & weight, dysmorphology exam. Full respiratory, cardiac and neurological exam. | within 1 month of recruitment |
| Bone age from x-ray. | X-ray assessment of bone age retrieved from medical notes (optional, only if done in routine clinical care previously). | within 1-month of recruitment. |
| Brain MRI | Result retrieved from medical records, optional only if done as part of routine care. | within 1 month of recruitment |
| Gonadal ultrasound | gonadal ultrasound, optional, if done by usual care team | within 1-month of recruitment |
| Serum oestradiol | Oestradiol (pmol/l) reference range Males 1 - 10 years 18.4 - 73.4 Roche 24.01.2011 Males aged 10 years + 41.4 - 159 Roche 07/09/2017 Females aged 1 - 10 years 22 - 99.1 Roche 24.01.2011 Follicular phase <91.8 - 854 Roche 02/08/2016 Ovulation phase 151 - 1461 Roche 02/08/2016 Luteal phase <91.8 - 1251 Roche 02/08/2016 Females post-menopausal <386 STH study 02/08/2016 | within 1 month of recruitment |
| Serum AMH | AntiMullerian Hormone (pmol/l) 2.5th, 5th , Median, 95th , 97.5th 20 - 24 yr 8.7, 10.9, 28.6, 71.0, 83.6 Roche 01/06/2018 25 - 29 yr 6.4, 8.6, 23.6, 64.6, 70.3 Roche 01/06/2018 30 - 34 yr 4.1, 5.1, 20.0, 54.2, 58.0 Roche 01/06/2018 35 - 39 yr 1.1, 2.9, 14.2, 49.7, 53.5 Roche 01/06/2018 40 - 44 yr 0.419, 0.4, 6.3, 31.7, 39.1 Roche 01/06/2018 45 - 50 yr 0.07, 0.07, 1.39, 12.8, 19.3 Roche 01/06/2018 | within 1 month of recruitment |
| Serum thyroid function tests | Free T3 (pmol/l) reference ranges Males, females 0 - 6 days 2.7 - 9.7 Roche 24.01.2011 Males, females 6 days - 3 months 3.0 - 9.3 Roche 24.01.2011 Males, females 3 - 12 months 3.3 - 9.0 Roche 24.01.2011 Males, females 1 - 6 years 3.7 - 8.5 Roche 24.01.2011 Males, females 6 - 11 years 3.9 - 8.0 Roche 24.01.2011 Males, females 11 - 20 years 3.9 - 7.7 Roche 24.01.2011 Males, females 20 years + 3.1 - 6.8 Roche 24.01.2011 Pregnancy, first trimester 3.8 - 6.0 Roche 24.01.2011 Pregnancy, second trimester 3.2 - 5.5 Roche 24.01.2011 Pregnancy, third trimester 3.1 - 5.0 Roche 24.01.2011 Free T4 (pmol/l) Males, females 0 - 6 days 11.0 - 32.0 Roche 24.01.2011 Males, females 6 days - 3 months 11.5 - 28.3 Roche 24.01.2011 Males, females 3 - 12 months 11.9 - 25.6 Roche 24.01.2011 Males, females 1 year + 11.9 - 21.6 Roche 14.03.2023 Pregnancy, first trimester 12.1 - 19.6 Roche 24.01.2011 Pregnancy, second trimester 9.6 - 17 Roche 24.01.2011 Pregnancy, third trimester 8.4 - 15.6 Roche 24.01.2011 | within 1 month of recruitment |
| Serum IGF1 level | GF-1 (µg/l) Males, 0 - 3 months No range (comment) 06.10.2020 Males, 3 - 6 months 12 - 94 Roche 06.10.2020 Males, 6 - 12 months 12 - 95 Roche 06.10.2020 Males, 1 year 12 - 96 Roche 06.10.2020 Males, 2 years 14 - 104 Roche 06.10.2020 Males, 3 years 19 - 116 Roche 06.10.2020 Males, 4 years 27 - 134 Roche 06.10.2020 Males, 5 years 37 - 156 Roche 06.10.2020 Males, 6 years 47 - 184 Roche 06.10.2020 Males, 7 years 58 - 216 Roche 06.10.2020 Males, 8 years 68 - 254 Roche 06.10.2020 Males, 9 years 77 - 296 Roche 06.10.2020 Males, 10 years 86 - 343 Roche 06.10.2020 Males, 11 years 94 - 392 Roche 06.10.2020 Males, 12 years 101 - 434 Roche 06.10.2020 Males, 13 years 108 - 467 Roche 06.10.2020 Males, 14 years 115 - 489 Roche 06.10.2020 Males, 15 years 120 - 501 Roche 06.10.2020 Males, 16 years 125 - 503 Roche 06.10.2020 Males, 17 years 129 - 495 Roche 06.10.2020 Males, 18 years 132 - 476 Roche 06.10.2020 Males, 19 years 134 - 450 Roche 06.10.2020 Males, 20 years 136 - 421 Roche 06.10.2020 Males, 2 | within 1 month recruitment |
| Serum prolactin | Males, females 0 - 1 year No range (comment) Males 1 year + 86 - 324 Roche 24.01.2011 Females 1 year + 102 - 496 Roche 24.01.2011 | within 1-month recruitment |
| serum cortisol | Cortisol (nmol/l) Neonates 50 - 300 Sippell et al 01.06.2012 Adults 6 - 10 am 4 - 8 pm Random or 8.30-9.30 am: Adrenal insufficiency unlikely (NB does not apply to sick patients with high index of suspicion) Synacthen test (30 min cort): Primary adrenal insufficiency unlikely 133 - 537 68 - 327 >/=350 >430 Wythenshawe In-house In-house 18.04.2016 21/12/2018 21/12/2018 | within 1 month recruitment |
| serum ACTH | ACTH, 7 am - 10 am (ng/l) 7.2 - 63.3 Roche 22/10/2018 | within 1-month |