Abstract | CONTEXT: CASE DESCRIPTION: We report a 21-year-old woman of European descent with CGL1 who had sparing of the facial fat and premature thelarche at birth with premature pubarche and menstrual bleeding at age 3 years. Her serum 17-OH progesterone level rose to 1000 ng/dL (30.26 nmol/L) after cosyntropin stimulation test, suggestive of nonclassical congenital adrenal hyperplasia (NCAH) due to 21-hydroxylase deficiency. Hydrocortisone replacement therapy from age 3.5 to 10 years resulted in cessation of menstruation and growth of pubic hair, and a reduction of breast size. Sanger and whole-exome sequencing revealed compound heterozygous variants c.493-1G>C; p.(Leu165_Gln196del), and c.del366_588+534; p.(Leu123Cysfs*55) in AGPAT2 plus c.806G>C; p.(Ser269Thr) and c.844G>T; p.(Val282Leu) in CYP21A2. She developed diabetes at age 13 requiring high-dose insulin and had 7 episodes of acute pancreatitis due to extreme hypertriglyceridemia in the next 5 years. Metreleptin therapy was initiated at age 18 and after 3 years, she had remission of diabetes and hypertriglyceridemia; however, menstrual irregularity and severe hirsutism did not improve. CONCLUSION:
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Authors | Sara Costa, Lurdes Sampaio, Ana Berta Sousa, Chao Xing, Anil K Agarwal, Abhimanyu Garg |
Journal | The Journal of clinical endocrinology and metabolism
(J Clin Endocrinol Metab)
Vol. 107
Issue 9
Pg. 2433-2438
(08 18 2022)
ISSN: 1945-7197 [Electronic] United States |
PMID | 35857714
(Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
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Copyright | Published by Oxford University Press on behalf of the Endocrine Society 2022. |
Chemical References |
- CYP21A2 protein, human
- Steroid 21-Hydroxylase
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Topics |
- Acute Disease
- Adolescent
- Adrenal Hyperplasia, Congenital
(complications, drug therapy, genetics)
- Adult
- Child
- Child, Preschool
- Female
- Hirsutism
(complications)
- Humans
- Hyperinsulinism
(complications)
- Hyperlipidemias
(complications)
- Hypertriglyceridemia
(complications)
- Infant, Newborn
- Lipodystrophy, Congenital Generalized
(complications, diagnosis, genetics)
- Menstruation Disturbances
(complications)
- Pancreatitis
- Puberty, Precocious
(complications)
- Steroid 21-Hydroxylase
- Young Adult
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