Familial blepharophimosis : an uncommon marker of ovarian dysgenesis
We report on six young female patients from two families who were found to have a very rare form of ovarian failure. Hypogonadism is inherited with an ocular abnormality consisting of a congenital dysplasia of the eyelids. In one family inheritance is autosomal dominant and in the other it is a de novo mutation. The patients have no other dysmorphic features and are of normal intelligence. Plasma levels of follicle-stimulating and luteinizing hormones are significantly elevated. Examination of the internal genitalia by laparoscopy was performed in four cases with ovarian biopsy in one case; the results are compatible with gonadal dysgenesis. Cytogenetic studies indicate the absence of chromosomal defects.
| Medienart: |
Artikel |
|---|
| Erscheinungsjahr: |
1995 |
|---|---|
| Erschienen: |
1995 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:8 |
|---|---|
| Enthalten in: |
Journal of pediatric endocrinology & metabolism : JPEM - 8(1995), 2 vom: 01. Apr., Seite 127-33 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Nicolino, M [VerfasserIn] |
|---|
| Themen: |
9002-67-9 |
|---|
| Anmerkungen: |
Date Completed 12.12.1995 Date Revised 04.09.2019 published: Print Citation Status MEDLINE |
|---|
| Förderinstitution / Projekttitel: |
|
|---|
| PPN (Katalog-ID): |
NLM075609495 |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM075609495 | ||
| 003 | DE-627 | ||
| 005 | 20231222025444.0 | ||
| 007 | tu | ||
| 008 | 231222s1995 xx ||||| 00| ||eng c | ||
| 028 | 5 | 2 | |a pubmed24n0252.xml |
| 035 | |a (DE-627)NLM075609495 | ||
| 035 | |a (NLM)7584707 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Nicolino, M |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Familial blepharophimosis |b an uncommon marker of ovarian dysgenesis |
| 264 | 1 | |c 1995 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ohne Hilfsmittel zu benutzen |b n |2 rdamedia | ||
| 338 | |a Band |b nc |2 rdacarrier | ||
| 500 | |a Date Completed 12.12.1995 | ||
| 500 | |a Date Revised 04.09.2019 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a We report on six young female patients from two families who were found to have a very rare form of ovarian failure. Hypogonadism is inherited with an ocular abnormality consisting of a congenital dysplasia of the eyelids. In one family inheritance is autosomal dominant and in the other it is a de novo mutation. The patients have no other dysmorphic features and are of normal intelligence. Plasma levels of follicle-stimulating and luteinizing hormones are significantly elevated. Examination of the internal genitalia by laparoscopy was performed in four cases with ovarian biopsy in one case; the results are compatible with gonadal dysgenesis. Cytogenetic studies indicate the absence of chromosomal defects | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
| 650 | 7 | |a Luteinizing Hormone |2 NLM | |
| 650 | 7 | |a 9002-67-9 |2 NLM | |
| 650 | 7 | |a Follicle Stimulating Hormone |2 NLM | |
| 650 | 7 | |a 9002-68-0 |2 NLM | |
| 700 | 1 | |a Bost, M |e verfasserin |4 aut | |
| 700 | 1 | |a David, M |e verfasserin |4 aut | |
| 700 | 1 | |a Chaussain, J L |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Journal of pediatric endocrinology & metabolism : JPEM |d 1995 |g 8(1995), 2 vom: 01. Apr., Seite 127-33 |w (DE-627)NLM07560924X |x 2191-0251 |7 nnns |
| 773 | 1 | 8 | |g volume:8 |g year:1995 |g number:2 |g day:01 |g month:04 |g pages:127-33 |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 8 |j 1995 |e 2 |b 01 |c 04 |h 127-33 | ||