PMID- 11779614
OWN - NLM
STAT- MEDLINE
DCOM- 20020213
LR  - 20190707
IS  - 0015-0282 (Print)
IS  - 0015-0282 (Linking)
VI  - 77
IP  - 1
DP  - 2002 Jan
TI  - Gonadal agenesis 46,XX associated with the atypical form of Rokitansky syndrome.
PG  - 185-7
AB  - OBJECTIVE: To describe a patient with bilateral ovarian agenesis associated with 
      the atypical form of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. DESIGN: Case 
      report. SETTING: Unit of Endocrinology, Fundacion Hospital Alcorcon. Madrid 
      (Spain). PATIENT: A 17-year-old woman who presented with primary amenorrhea and 
      lack of mammary development. INTERVENTION(S): An endocrine study including 
      pituitary, ovarian, adrenal, and thyroid evaluation was performed. Genetic study 
      was done by karyotype and fluorescence in situ hybridization (FISH) analysis to 
      detect the presence of Y chromosome material. Bone study, intravenous urography, 
      pelvic ultrasound, and laparoscopic study were ordered to evaluate the associated 
      genitourinary and skeletal anomalies. MAIN OUTCOME MEASURE(S): Anatomic, 
      endocrine, and genetic description of the patient. RESULT(S): The gynecologic 
      examination showed a normal vagina ending in a blind pouch. The endocrine 
      evaluation disclosed gonadotropin levels in the menopausal range and 
      nonautoimmune subclinical primary hypothyroidism. The laparoscopic study revealed 
      a single pelvic kidney and an absence of gonads, fallopian tubes, and uterus. The 
      karyotype was 46,XX; no Y chromosome was found in FISH analysis. CONCLUSION(S): 
      To our knowledge, this is the first report of gonadal agenesis 46,XX associated 
      with the atypical form of MRKH syndrome. The primary hypothyroidism may be 
      coincidental.
FAU - Gorgojo, Juan Jose
AU  - Gorgojo JJ
AD  - Unit of Endocrinology, Fundacion Hospital of Alcorcon, Alcorcon, Spain. 
      jjgorgojo@fhalcorcon.es
FAU - Almodovar, Francisca
AU  - Almodovar F
FAU - Lopez, Elena
AU  - Lopez E
FAU - Donnay, Sergio
AU  - Donnay S
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Fertil Steril
JT  - Fertility and sterility
JID - 0372772
SB  - IM
MH  - Abnormalities, Multiple/diagnosis/*genetics
MH  - Adolescent
MH  - Amenorrhea/genetics
MH  - *Chromosome Mapping
MH  - Female
MH  - Gonadal Dysgenesis/diagnosis/*genetics
MH  - Humans
MH  - Kidney/abnormalities/diagnostic imaging
MH  - Radiography
MH  - Syndrome
EDAT- 2002/01/10 10:00
MHDA- 2002/02/14 10:01
CRDT- 2002/01/10 10:00
PHST- 2002/01/10 10:00 [pubmed]
PHST- 2002/02/14 10:01 [medline]
PHST- 2002/01/10 10:00 [entrez]
AID - S0015028201029430 [pii]
AID - 10.1016/s0015-0282(01)02943-0 [doi]
PST - ppublish
SO  - Fertil Steril. 2002 Jan;77(1):185-7. doi: 10.1016/s0015-0282(01)02943-0.