Abstract
We report on a 31-year old female who presented at genetic counseling for a small uterus, secondary amenorrhea and sterility. Gonadotropic hormone levels were low, suggesting a Hypogonadotropic Hypogonadism (HH) condition. Cytogenetic analysis demonstrated the presence of Trisomy X associated to an interstitial deletion of chromosome 4q13.2, resulting in the complete loss of a copy of the GNRHR gene. As GNRHR is known to be responsible for an autosomal recessive form of HH, we checked the status of the undeleted allele and we found the Q106R substitution. In conclusion, the results of our cytogenetic and molecular analyses have allowed us to clarify the etiology of the patient's condition.
| Original language | English |
|---|---|
| Pages (from-to) | 14-17 |
| Number of pages | 4 |
| Journal | Gynecological Endocrinology |
| Volume | 32 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Jan 2 2016 |
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Keywords
- 4q13.2
- deletion
- genetic counseling
- GNRHR
- Hypogonadotropic hypogonadism
- trisomy X
ASJC Scopus subject areas
- Endocrinology
- Endocrinology, Diabetes and Metabolism
- Obstetrics and Gynaecology
Cite this
Hypogonadotropic hypogonadism in a trisomy X carrier : Phenotype description and genotype correlation. / Fiorio, Patrizia; Rosaia De Santis, Lucia; Cuoco, Cristina; Gimelli, Giorgio; Gastaldi, Roberto; Bonatti, Fabrizia; Ravazzolo, Roberto; Bocciardi, Renata.
In: Gynecological Endocrinology, Vol. 32, No. 1, 02.01.2016, p. 14-17.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Hypogonadotropic hypogonadism in a trisomy X carrier
T2 - Phenotype description and genotype correlation
AU - Fiorio, Patrizia
AU - Rosaia De Santis, Lucia
AU - Cuoco, Cristina
AU - Gimelli, Giorgio
AU - Gastaldi, Roberto
AU - Bonatti, Fabrizia
AU - Ravazzolo, Roberto
AU - Bocciardi, Renata
PY - 2016/1/2
Y1 - 2016/1/2
N2 - We report on a 31-year old female who presented at genetic counseling for a small uterus, secondary amenorrhea and sterility. Gonadotropic hormone levels were low, suggesting a Hypogonadotropic Hypogonadism (HH) condition. Cytogenetic analysis demonstrated the presence of Trisomy X associated to an interstitial deletion of chromosome 4q13.2, resulting in the complete loss of a copy of the GNRHR gene. As GNRHR is known to be responsible for an autosomal recessive form of HH, we checked the status of the undeleted allele and we found the Q106R substitution. In conclusion, the results of our cytogenetic and molecular analyses have allowed us to clarify the etiology of the patient's condition.
AB - We report on a 31-year old female who presented at genetic counseling for a small uterus, secondary amenorrhea and sterility. Gonadotropic hormone levels were low, suggesting a Hypogonadotropic Hypogonadism (HH) condition. Cytogenetic analysis demonstrated the presence of Trisomy X associated to an interstitial deletion of chromosome 4q13.2, resulting in the complete loss of a copy of the GNRHR gene. As GNRHR is known to be responsible for an autosomal recessive form of HH, we checked the status of the undeleted allele and we found the Q106R substitution. In conclusion, the results of our cytogenetic and molecular analyses have allowed us to clarify the etiology of the patient's condition.
KW - 4q13.2
KW - deletion
KW - genetic counseling
KW - GNRHR
KW - Hypogonadotropic hypogonadism
KW - trisomy X
UR - http://www.scopus.com/inward/record.url?scp=84955736019&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84955736019&partnerID=8YFLogxK
U2 - 10.3109/09513590.2015.1106472
DO - 10.3109/09513590.2015.1106472
M3 - Article
VL - 32
SP - 14
EP - 17
JO - Gynecological Endocrinology
JF - Gynecological Endocrinology
SN - 0951-3590
IS - 1
ER -