RESUMO
We describe successful controlled ovarian stimulation (COS) and the first known IVF pregnancy in a trisomy X carrier with associated hypogonadotropic hypogonadism (HH) linked to a chromosome 4 double mutation in the allele of the Gonadotropins Releasing Hormone receptor (GnRHr) gene. Previous administration of low dose of gonadotropins, as recommended in patients with HH, led to poor follicular recruitment. Since trisomy X is a risk factor for diminished ovarian reserve (DOR) and premature ovarian insufficiency (POI), higher doses of gonadotropins led to better ovarian response. The report readknowledges the importance of a correct genetic evaluation in a competent laboratory as a reliable base for treatment planning in this kind of patients.
Assuntos
Fertilização in vitro , Hipogonadismo/complicações , Hipogonadismo/terapia , Indução da Ovulação/métodos , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/complicações , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/terapia , Adulto , Cromossomos Humanos X , Feminino , Humanos , Recém-Nascido , Infertilidade Feminina/etiologia , Infertilidade Feminina/terapia , Gravidez , Aberrações dos Cromossomos Sexuais , Resultado do Tratamento , TrissomiaRESUMO
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.
Assuntos
Amenorreia/genética , Hipogonadismo/genética , Infertilidade Feminina/genética , Receptores LHRH/genética , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Trissomia/genética , Útero/anormalidades , Adulto , Amenorreia/metabolismo , Amenorreia/fisiopatologia , Cromossomos Humanos Par 4/genética , Cromossomos Humanos X/genética , Cromossomos Humanos X/metabolismo , Feminino , Deleção de Genes , Genótipo , Gonadotropinas/metabolismo , Humanos , Hipogonadismo/metabolismo , Hipogonadismo/fisiopatologia , Infertilidade Feminina/metabolismo , Infertilidade Feminina/fisiopatologia , Cariótipo , Fenótipo , Análise de Sequência de DNA , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/metabolismo , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/fisiopatologia , Trissomia/fisiopatologiaRESUMO
AIM: PHACES syndrome is a neurocutaneous condition characterized by the coexistence of large facial haemangiomas and at least one feature among posterior fossa malformations, cardiac and arterial anomalies, eye defects and sternal clefting. We review and discuss the phenotypes and the endocrine aspects of PHACES syndrome, hypothesizing that endocrine anomalies, although rare, could be considered as feature of the disease. METHODS: We described four new cases representative of the wide variable phenotype of this syndrome, commenting on the possible phenotypic expression. RESULTS: Two children displayed endocrine anomalies, sporadically described among PHACES subjects. One of them developed a transient hyperthyreotropinemia induced by interferon alpha-2alpha treatment for a giant facial haemangioma, while the second presented with congenital hypothyroidism with an in situ thyroid gland, a trait previously unreported in the syndrome. CONCLUSION: PHACES syndrome has a wide variable phenotypic expression and endocrine anomalies, especially hypothyroidism, may represent a trait of the syndrome and should be always investigated.
